← Back to variant description
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: 1-107642679-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=107642679&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 107642679,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000370056.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His",
"transcript": "NM_006113.5",
"protein_id": "NP_006104.4",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 847,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": "ENST00000370056.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His",
"transcript": "ENST00000370056.9",
"protein_id": "ENSP00000359073.4",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 847,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": "NM_006113.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His",
"transcript": "ENST00000527011.5",
"protein_id": "ENSP00000432540.1",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 875,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Gln58His",
"transcript": "ENST00000415432.6",
"protein_id": "ENSP00000394897.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 287,
"cds_start": 174,
"cds_end": null,
"cds_length": 864,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1293,
"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": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.1700G>T",
"hgvs_p": null,
"transcript": "ENST00000343258.8",
"protein_id": null,
"transcript_support_level": 1,
"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": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Gln58His",
"transcript": "NM_001079874.2",
"protein_id": "NP_001073343.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 287,
"cds_start": 174,
"cds_end": null,
"cds_length": 864,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.435G>T",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000529809.5",
"protein_id": "ENSP00000431544.1",
"transcript_support_level": 4,
"aa_start": 145,
"aa_end": null,
"aa_length": 180,
"cds_start": 435,
"cds_end": null,
"cds_length": 544,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1782G>T",
"hgvs_p": "p.Gln594His",
"transcript": "XM_017000053.2",
"protein_id": "XP_016855542.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 823,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His",
"transcript": "XM_017000054.2",
"protein_id": "XP_016855543.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 783,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 20070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1593G>T",
"hgvs_p": "p.Gln531His",
"transcript": "XM_024450319.2",
"protein_id": "XP_024306087.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 760,
"cds_start": 1593,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1572G>T",
"hgvs_p": "p.Gln524His",
"transcript": "XM_005270360.3",
"protein_id": "XP_005270417.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 753,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1566G>T",
"hgvs_p": "p.Gln522His",
"transcript": "XM_017000055.1",
"protein_id": "XP_016855544.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 751,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1326G>T",
"hgvs_p": "p.Gln442His",
"transcript": "XM_047430439.1",
"protein_id": "XP_047286395.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 671,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1326G>T",
"hgvs_p": "p.Gln442His",
"transcript": "XM_047430476.1",
"protein_id": "XP_047286432.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 671,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Ser603Ile",
"transcript": "XM_047430543.1",
"protein_id": "XP_047286499.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 612,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "XM_017000056.2",
"protein_id": "XP_016855545.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 407,
"cds_start": 534,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3666,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.271G>T",
"hgvs_p": null,
"transcript": "ENST00000479977.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 549,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.128G>T",
"hgvs_p": null,
"transcript": "ENST00000525231.5",
"protein_id": "ENSP00000434944.1",
"transcript_support_level": 4,
"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": 545,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.268G>T",
"hgvs_p": null,
"transcript": "ENST00000525460.5",
"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": 1423,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.136G>T",
"hgvs_p": null,
"transcript": "ENST00000529033.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 549,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.128G>T",
"hgvs_p": null,
"transcript": "ENST00000529413.5",
"protein_id": "ENSP00000432865.1",
"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": 1374,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.452G>T",
"hgvs_p": null,
"transcript": "ENST00000533398.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"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": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"hgvs_c": "n.2165G>T",
"hgvs_p": null,
"transcript": "XR_007063680.1",
"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": 18887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VAV3",
"gene_hgnc_id": 12659,
"dbsnp": "rs12403266",
"frequency_reference_population": 0.000006575227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657523,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11580008268356323,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.062,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370056.9",
"gene_symbol": "VAV3",
"hgnc_id": 12659,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}