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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: 2-144007362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144007362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144007362,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001376306.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376312.2",
"protein_id": "NP_001363241.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682281.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376312.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "ENST00000682281.1",
"protein_id": "ENSP00000507713.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376312.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682281.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "ENST00000409214.5",
"protein_id": "ENSP00000386581.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409214.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000463875.6",
"protein_id": "ENSP00000437964.1",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 329,
"cds_start": 308,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463875.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "NM_001376306.2",
"protein_id": "NP_001363235.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 507,
"cds_start": 842,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376306.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000909690.1",
"protein_id": "ENSP00000579749.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 507,
"cds_start": 842,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909690.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000909705.1",
"protein_id": "ENSP00000579764.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 507,
"cds_start": 842,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909705.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000970683.1",
"protein_id": "ENSP00000640742.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 507,
"cds_start": 842,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970683.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000970685.1",
"protein_id": "ENSP00000640744.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 507,
"cds_start": 842,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970685.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001006636.5",
"protein_id": "NP_001006637.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006636.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001164629.5",
"protein_id": "NP_001158101.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164629.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001354354.2",
"protein_id": "NP_001341283.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354354.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001354361.1",
"protein_id": "NP_001341290.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354361.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376307.2",
"protein_id": "NP_001363236.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376307.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376308.2",
"protein_id": "NP_001363237.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376308.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376309.2",
"protein_id": "NP_001363238.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376309.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376310.2",
"protein_id": "NP_001363239.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376310.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376311.2",
"protein_id": "NP_001363240.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376311.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376313.2",
"protein_id": "NP_001363242.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376313.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376314.2",
"protein_id": "NP_001363243.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376314.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTMAN",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001376315.2",
"protein_id": "NP_001363244.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376315.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTDC1",
"gene_hgnc_id": 20887,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "ENST00000344850.8",
"protein_id": "ENSP00000339750.4",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 695,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Benign",
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{
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}