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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: 9-133768584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133768584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133768584,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001134398.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816His",
"transcript": "NM_001134398.2",
"protein_id": "NP_001127870.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 878,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371850.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134398.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816His",
"transcript": "ENST00000371850.8",
"protein_id": "ENSP00000360916.3",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 878,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134398.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371850.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "ENST00000406606.7",
"protein_id": "ENSP00000385362.3",
"transcript_support_level": 1,
"aa_start": 777,
"aa_end": null,
"aa_length": 839,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406606.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His",
"transcript": "ENST00000876887.1",
"protein_id": "ENSP00000546946.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 919,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2501G>A",
"hgvs_p": "p.Arg834His",
"transcript": "ENST00000954043.1",
"protein_id": "ENSP00000624102.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 896,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954043.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000954049.1",
"protein_id": "ENSP00000624108.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 895,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954049.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000954045.1",
"protein_id": "ENSP00000624104.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 886,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954045.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000954046.1",
"protein_id": "ENSP00000624105.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 886,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954046.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2429G>A",
"hgvs_p": "p.Arg810His",
"transcript": "ENST00000876886.1",
"protein_id": "ENSP00000546945.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 872,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876886.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806His",
"transcript": "NM_001411028.1",
"protein_id": "NP_001397957.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 868,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806His",
"transcript": "ENST00000371851.1",
"protein_id": "ENSP00000360917.1",
"transcript_support_level": 5,
"aa_start": 806,
"aa_end": null,
"aa_length": 868,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371851.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805His",
"transcript": "ENST00000954047.1",
"protein_id": "ENSP00000624106.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 867,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954047.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2384G>A",
"hgvs_p": "p.Arg795His",
"transcript": "ENST00000876885.1",
"protein_id": "ENSP00000546944.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 857,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876885.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2363G>A",
"hgvs_p": "p.Arg788His",
"transcript": "ENST00000954048.1",
"protein_id": "ENSP00000624107.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 850,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954048.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "NM_003371.4",
"protein_id": "NP_003362.2",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 839,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003371.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2327G>A",
"hgvs_p": "p.Arg776His",
"transcript": "ENST00000954044.1",
"protein_id": "ENSP00000624103.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 838,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954044.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2300G>A",
"hgvs_p": "p.Arg767His",
"transcript": "ENST00000923293.1",
"protein_id": "ENSP00000593352.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 829,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923293.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756His",
"transcript": "ENST00000954042.1",
"protein_id": "ENSP00000624101.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 818,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954042.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "ENST00000923292.1",
"protein_id": "ENSP00000593351.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 800,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923292.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857His",
"transcript": "XM_047423845.1",
"protein_id": "XP_047279801.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 919,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423845.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2501G>A",
"hgvs_p": "p.Arg834His",
"transcript": "XM_017015108.2",
"protein_id": "XP_016870597.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 896,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015108.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2486G>A",
"hgvs_p": "p.Arg829His",
"transcript": "XM_017015109.2",
"protein_id": "XP_016870598.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 891,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015109.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811His",
"transcript": "XM_017015110.2",
"protein_id": "XP_016870599.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 873,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015110.2"
}
],
"gene_symbol": "VAV2",
"gene_hgnc_id": 12658,
"dbsnp": "rs202055327",
"frequency_reference_population": 0.00008613361,
"hom_count_reference_population": 1,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.0000868927,
"gnomad_genomes_af": 0.0000788436,
"gnomad_exomes_ac": 127,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20196875929832458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.133,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.069,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001134398.2",
"gene_symbol": "VAV2",
"hgnc_id": 12658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2447G>A",
"hgvs_p": "p.Arg816His"
}
],
"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
}