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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: 7-13895981-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=13895981&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 13895981,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004956.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "NM_004956.5",
"protein_id": "NP_004947.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430479.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004956.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000430479.6",
"protein_id": "ENSP00000405327.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004956.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430479.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"transcript": "ENST00000405358.8",
"protein_id": "ENSP00000384085.4",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 491,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405358.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000405218.6",
"protein_id": "ENSP00000385551.2",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405218.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "ENST00000403685.5",
"protein_id": "ENSP00000385686.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 459,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403685.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417His",
"transcript": "ENST00000405192.6",
"protein_id": "ENSP00000385381.2",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 454,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405192.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"transcript": "ENST00000403527.6",
"protein_id": "ENSP00000384138.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 437,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403527.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "ENST00000438956.6",
"protein_id": "ENSP00000393078.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 419,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438956.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "n.*279G>A",
"hgvs_p": null,
"transcript": "ENST00000443137.5",
"protein_id": "ENSP00000413836.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000443137.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "n.*279G>A",
"hgvs_p": null,
"transcript": "ENST00000443137.5",
"protein_id": "ENSP00000413836.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000443137.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449His",
"transcript": "ENST00000897798.1",
"protein_id": "ENSP00000567857.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 486,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897798.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "NM_001370555.1",
"protein_id": "NP_001357484.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370555.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000970556.1",
"protein_id": "ENSP00000640615.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970556.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000970557.1",
"protein_id": "ENSP00000640616.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970557.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000970560.1",
"protein_id": "ENSP00000640619.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 477,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970560.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Arg439His",
"transcript": "ENST00000970559.1",
"protein_id": "ENSP00000640618.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 476,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970559.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "NM_001370556.1",
"protein_id": "NP_001357485.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 461,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370556.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "NM_001163148.2",
"protein_id": "NP_001156620.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 459,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163148.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "NM_001163149.2",
"protein_id": "NP_001156621.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 459,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163149.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "ENST00000242066.10",
"protein_id": "ENSP00000242066.5",
"transcript_support_level": 5,
"aa_start": 422,
"aa_end": null,
"aa_length": 459,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242066.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417His",
"transcript": "NM_001163147.2",
"protein_id": "NP_001156619.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 454,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163147.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV1",
"gene_hgnc_id": 3490,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"transcript": "NM_001163150.2",
"protein_id": "NP_001156622.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 437,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163150.2"
},
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{
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}