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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: 10-95780402-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95780402&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95780402,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000371205.5",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.16+24147C>T",
"hgvs_p": null,
"transcript": "NM_001776.6",
"protein_id": "NP_001767.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12493,
"mane_select": "ENST00000371205.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.16+24147C>T",
"hgvs_p": null,
"transcript": "ENST00000371205.5",
"protein_id": "ENSP00000360248.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12493,
"mane_select": "NM_001776.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.38-42835C>T",
"hgvs_p": null,
"transcript": "ENST00000453258.6",
"protein_id": "ENSP00000390955.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "n.16+24147C>T",
"hgvs_p": null,
"transcript": "ENST00000635076.1",
"protein_id": "ENSP00000489250.1",
"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": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.94+23626C>T",
"hgvs_p": null,
"transcript": "NM_001440932.1",
"protein_id": "NP_001427861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52+24636C>T",
"hgvs_p": null,
"transcript": "NM_001164178.1",
"protein_id": "NP_001157650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
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"cdna_length": 12515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52+24636C>T",
"hgvs_p": null,
"transcript": "ENST00000371207.8",
"protein_id": "ENSP00000360250.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
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"cds_length": 1569,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.38-42835C>T",
"hgvs_p": null,
"transcript": "NM_001098175.2",
"protein_id": "NP_001091645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.38-42835C>T",
"hgvs_p": null,
"transcript": "NM_001440933.1",
"protein_id": "NP_001427862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
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"cds_length": 1554,
"cdna_start": null,
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"cdna_length": 13029,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "ENTPD1",
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"hgvs_c": "c.38-42835C>T",
"hgvs_p": null,
"transcript": "NM_001440934.1",
"protein_id": "NP_001427863.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52+24636C>T",
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"transcript": "NM_001440935.1",
"protein_id": "NP_001427864.1",
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},
{
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],
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},
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],
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],
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"gene_symbol": "ENTPD1",
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],
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},
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],
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"gene_symbol": "ENTPD1",
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},
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],
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],
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"hgvs_c": "c.-248+24147C>T",
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},
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],
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"gene_symbol": "ENTPD1",
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},
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