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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: 9-35685721-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35685721&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35685721,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003289.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "NM_003289.4",
"protein_id": "NP_003280.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645482.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003289.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000645482.3",
"protein_id": "ENSP00000496494.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003289.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645482.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000378292.9",
"protein_id": "ENSP00000367542.3",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378292.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000951580.1",
"protein_id": "ENSP00000621639.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 289,
"cds_start": 300,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951580.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "NM_001301226.2",
"protein_id": "NP_001288155.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301226.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "NM_001301227.2",
"protein_id": "NP_001288156.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301227.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "NM_213674.1",
"protein_id": "NP_998839.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213674.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000329305.6",
"protein_id": "ENSP00000367541.1",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329305.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000647435.1",
"protein_id": "ENSP00000495440.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 284,
"cds_start": 300,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647435.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000951581.1",
"protein_id": "ENSP00000621640.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 282,
"cds_start": 300,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951581.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000951585.1",
"protein_id": "ENSP00000621644.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 264,
"cds_start": 300,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951585.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000951582.1",
"protein_id": "ENSP00000621641.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 263,
"cds_start": 300,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951582.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Asp58Asp",
"transcript": "ENST00000951584.1",
"protein_id": "ENSP00000621643.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 242,
"cds_start": 174,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951584.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "ENST00000951583.1",
"protein_id": "ENSP00000621642.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 228,
"cds_start": 300,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951583.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "XM_017015088.3",
"protein_id": "XP_016870577.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 303,
"cds_start": 300,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015088.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"transcript": "XM_047423827.1",
"protein_id": "XP_047279783.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 213,
"cds_start": 300,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.232-55C>T",
"hgvs_p": null,
"transcript": "ENST00000951578.1",
"protein_id": "ENSP00000621637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.220-46C>T",
"hgvs_p": null,
"transcript": "ENST00000951577.1",
"protein_id": "ENSP00000621636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.190-237C>T",
"hgvs_p": null,
"transcript": "ENST00000951579.1",
"protein_id": "ENSP00000621638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.383C>T",
"hgvs_p": null,
"transcript": "ENST00000471212.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471212.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.135C>T",
"hgvs_p": null,
"transcript": "ENST00000643485.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.223-37C>T",
"hgvs_p": null,
"transcript": "ENST00000604975.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000604975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.-178C>T",
"hgvs_p": null,
"transcript": "ENST00000486018.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486018.1"
}
],
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"dbsnp": "rs532190742",
"frequency_reference_population": 0.0003816255,
"hom_count_reference_population": 8,
"allele_count_reference_population": 616,
"gnomad_exomes_af": 0.000402904,
"gnomad_genomes_af": 0.000177326,
"gnomad_exomes_ac": 589,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.689,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003289.4",
"gene_symbol": "TPM2",
"hgnc_id": 12011,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp"
}
],
"clinvar_disease": " distal, type 1A,Arthrogryposis,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|Arthrogryposis, distal, type 1A|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}