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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: 6-70747371-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70747371&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70747371,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001044305.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "NM_001044305.3",
"protein_id": "NP_001037770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "ENST00000370455.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001044305.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000370455.8",
"protein_id": "ENSP00000359484.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "NM_001044305.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370455.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.223-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000619054.4",
"protein_id": "ENSP00000484538.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619054.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000316999.9",
"protein_id": "ENSP00000313382.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": null,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316999.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000939437.1",
"protein_id": "ENSP00000609496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": null,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000960750.1",
"protein_id": "ENSP00000630809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000960747.1",
"protein_id": "ENSP00000630806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.301-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000960749.1",
"protein_id": "ENSP00000630808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000960746.1",
"protein_id": "ENSP00000630805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960746.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.253-7609T>C",
"hgvs_p": null,
"transcript": "ENST00000894942.1",
"protein_id": "ENSP00000565001.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000894942.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.253-7609T>C",
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"transcript": "ENST00000894941.1",
"protein_id": "ENSP00000565000.1",
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},
{
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],
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"transcript": "NM_001281440.1",
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},
{
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],
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"gene_symbol": "SMAP1",
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},
{
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],
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},
{
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],
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.253-7609T>C",
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"transcript": "ENST00000960748.1",
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},
{
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],
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},
{
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],
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"transcript": "ENST00000370452.7",
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},
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],
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.253-7609T>C",
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},
{
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],
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},
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.223-7609T>C",
"hgvs_p": null,
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"protein_id": "XP_047275184.1",
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},
{
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],
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{
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"verdict": "Benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}