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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-43793711-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43793711&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43793711,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000249786.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "NM_001018108.4",
"protein_id": "NP_001018118.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 59,
"cds_start": 118,
"cds_end": null,
"cds_length": 180,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": "ENST00000249786.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "ENST00000249786.9",
"protein_id": "ENSP00000249786.4",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 59,
"cds_start": 118,
"cds_end": null,
"cds_length": 180,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": "NM_001018108.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "ENST00000381359.5",
"protein_id": "ENSP00000370764.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 59,
"cds_start": 118,
"cds_end": null,
"cds_length": 180,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.252G>T",
"hgvs_p": "p.Gly84Gly",
"transcript": "ENST00000409960.6",
"protein_id": "ENSP00000387187.2",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 170,
"cds_start": 252,
"cds_end": null,
"cds_length": 513,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262560",
"gene_hgnc_id": null,
"hgvs_c": "n.*439+1677C>A",
"hgvs_p": null,
"transcript": "ENST00000417761.2",
"protein_id": "ENSP00000415219.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.118G>T",
"hgvs_p": "p.Asp40Tyr",
"transcript": "NM_001199877.2",
"protein_id": "NP_001186806.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 59,
"cds_start": 118,
"cds_end": null,
"cds_length": 180,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.76G>T",
"hgvs_p": "p.Asp26Tyr",
"transcript": "NM_001199878.2",
"protein_id": "NP_001186807.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 45,
"cds_start": 76,
"cds_end": null,
"cds_length": 138,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.76G>T",
"hgvs_p": "p.Asp26Tyr",
"transcript": "ENST00000402131.5",
"protein_id": "ENSP00000386044.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 45,
"cds_start": 76,
"cds_end": null,
"cds_length": 138,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.76G>T",
"hgvs_p": "p.Asp26Tyr",
"transcript": "ENST00000403425.5",
"protein_id": "ENSP00000384300.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 45,
"cds_start": 76,
"cds_end": null,
"cds_length": 138,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.76G>T",
"hgvs_p": "p.Asp26Tyr",
"transcript": "ENST00000409614.1",
"protein_id": "ENSP00000386783.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 45,
"cds_start": 76,
"cds_end": null,
"cds_length": 138,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.252G>T",
"hgvs_p": "p.Gly84Gly",
"transcript": "NM_001199875.1",
"protein_id": "NP_001186804.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 170,
"cds_start": 252,
"cds_end": null,
"cds_length": 513,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.141G>T",
"hgvs_p": "p.Gly47Gly",
"transcript": "NM_001199876.1",
"protein_id": "NP_001186805.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 133,
"cds_start": 141,
"cds_end": null,
"cds_length": 402,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.141G>T",
"hgvs_p": "p.Gly47Gly",
"transcript": "ENST00000339624.9",
"protein_id": "ENSP00000339647.5",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 133,
"cds_start": 141,
"cds_end": null,
"cds_length": 402,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1282",
"gene_hgnc_id": 35360,
"hgvs_c": "n.49C>A",
"hgvs_p": null,
"transcript": "ENST00000408865.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "n.118G>T",
"hgvs_p": null,
"transcript": "ENST00000445816.5",
"protein_id": "ENSP00000400178.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "n.791G>T",
"hgvs_p": null,
"transcript": "ENST00000486144.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1282",
"gene_hgnc_id": 35360,
"hgvs_c": "n.49C>A",
"hgvs_p": null,
"transcript": "NR_031695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "n.519G>T",
"hgvs_p": null,
"transcript": "NR_037672.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.116+628G>T",
"hgvs_p": null,
"transcript": "ENST00000630046.2",
"protein_id": "ENSP00000486542.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.116+628G>T",
"hgvs_p": null,
"transcript": "ENST00000409646.5",
"protein_id": "ENSP00000386316.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.74+628G>T",
"hgvs_p": null,
"transcript": "ENST00000430901.1",
"protein_id": "ENSP00000394660.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "c.74+628G>T",
"hgvs_p": null,
"transcript": "ENST00000409291.5",
"protein_id": "ENSP00000387041.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERF2",
"gene_hgnc_id": 10757,
"hgvs_c": "n.116+628G>T",
"hgvs_p": null,
"transcript": "ENST00000409617.6",
"protein_id": "ENSP00000386290.1",
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},
{
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{
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},
{
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],
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8049492835998535,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.539,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Asp40Tyr"
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{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000417761.2",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
"hgvs_c": "n.*439+1677C>A",
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},
{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_031695.1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.49C>A",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037673.1",
"gene_symbol": "SERF2-C15ORF63",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.517+628G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}