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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: 2-162347693-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162347693&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162347693,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000437150.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Ser48Cys",
"transcript": "NM_012198.5",
"protein_id": "NP_036330.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 217,
"cds_start": 143,
"cds_end": null,
"cds_length": 654,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "ENST00000437150.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Ser48Cys",
"transcript": "ENST00000437150.7",
"protein_id": "ENSP00000394842.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 217,
"cds_start": 143,
"cds_end": null,
"cds_length": 654,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "NM_012198.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.221C>G",
"hgvs_p": "p.Ser74Cys",
"transcript": "NM_001330268.1",
"protein_id": "NP_001317197.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 243,
"cds_start": 221,
"cds_end": null,
"cds_length": 732,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "NM_001330265.1",
"protein_id": "NP_001317194.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 232,
"cds_start": 188,
"cds_end": null,
"cds_length": 699,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "NM_001330266.1",
"protein_id": "NP_001317195.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 232,
"cds_start": 188,
"cds_end": null,
"cds_length": 699,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "NM_001330267.1",
"protein_id": "NP_001317196.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 232,
"cds_start": 188,
"cds_end": null,
"cds_length": 699,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "NM_001330270.2",
"protein_id": "NP_001317199.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 198,
"cds_start": 86,
"cds_end": null,
"cds_length": 597,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "NM_001330271.2",
"protein_id": "NP_001317200.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 198,
"cds_start": 86,
"cds_end": null,
"cds_length": 597,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "ENST00000233612.8",
"protein_id": "ENSP00000233612.4",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 198,
"cds_start": 86,
"cds_end": null,
"cds_length": 597,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.221C>G",
"hgvs_p": "p.Ser74Cys",
"transcript": "ENST00000446271.5",
"protein_id": "ENSP00000393218.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 145,
"cds_start": 221,
"cds_end": null,
"cds_length": 440,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "ENST00000453113.6",
"protein_id": "ENSP00000403805.2",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 131,
"cds_start": 86,
"cds_end": null,
"cds_length": 397,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "ENST00000429691.6",
"protein_id": "ENSP00000412899.2",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 87,
"cds_start": 86,
"cds_end": null,
"cds_length": 264,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.221C>G",
"hgvs_p": "p.Ser74Cys",
"transcript": "XM_006712398.5",
"protein_id": "XP_006712461.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 259,
"cds_start": 221,
"cds_end": null,
"cds_length": 780,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "XM_006712400.5",
"protein_id": "XP_006712463.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 248,
"cds_start": 188,
"cds_end": null,
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"cdna_start": 651,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "XM_047443881.1",
"protein_id": "XP_047299837.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 248,
"cds_start": 188,
"cds_end": null,
"cds_length": 747,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Cys",
"transcript": "XM_047443882.1",
"protein_id": "XP_047299838.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 248,
"cds_start": 188,
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"cdna_start": 329,
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"cdna_length": 1113,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Ser48Cys",
"transcript": "XM_005246446.4",
"protein_id": "XP_005246503.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 233,
"cds_start": 143,
"cds_end": null,
"cds_length": 702,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "XM_011510926.3",
"protein_id": "XP_011509228.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 214,
"cds_start": 86,
"cds_end": null,
"cds_length": 645,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ser29Cys",
"transcript": "XM_017003767.2",
"protein_id": "XP_016859256.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 214,
"cds_start": 86,
"cds_end": null,
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"cdna_start": 345,
"cdna_end": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "n.574C>G",
"hgvs_p": null,
"transcript": "ENST00000473240.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 814,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "n.210C>G",
"hgvs_p": null,
"transcript": "ENST00000479199.1",
"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,
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"cdna_length": 597,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "n.258C>G",
"hgvs_p": null,
"transcript": "ENST00000481161.5",
"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": 605,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "n.233C>G",
"hgvs_p": null,
"transcript": "ENST00000487445.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27643299102783203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000437150.7",
"gene_symbol": "GCA",
"hgnc_id": 15990,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Ser48Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}