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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: 9-106870072-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=106870072&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 106870072,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000277225.10",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6717G>A",
"hgvs_p": null,
"transcript": "NM_021224.6",
"protein_id": "NP_067047.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2506,
"cds_start": -4,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10345,
"mane_select": "ENST00000277225.10",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6717G>A",
"hgvs_p": null,
"transcript": "ENST00000277225.10",
"protein_id": "ENSP00000277225.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2506,
"cds_start": -4,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10345,
"mane_select": "NM_021224.6",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6717G>A",
"hgvs_p": null,
"transcript": "NM_001347997.2",
"protein_id": "NP_001334926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1641,
"cds_start": -4,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7750,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6717G>A",
"hgvs_p": null,
"transcript": "ENST00000472574.1",
"protein_id": "ENSP00000476222.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6717G>A",
"hgvs_p": null,
"transcript": "XM_006717209.5",
"protein_id": "XP_006717272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2567,
"cds_start": -4,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10528,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+9859G>A",
"hgvs_p": null,
"transcript": "XM_006717212.5",
"protein_id": "XP_006717275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2567,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+6041G>A",
"hgvs_p": null,
"transcript": "XM_017014996.3",
"protein_id": "XP_016870485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+3881G>A",
"hgvs_p": null,
"transcript": "XM_024447629.1",
"protein_id": "XP_024303397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2567,
"cds_start": -4,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11295,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF462",
"gene_hgnc_id": 21684,
"hgvs_c": "c.-31+3881G>A",
"hgvs_p": null,
"transcript": "XM_047423661.1",
"protein_id": "XP_047279617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "ZNF462",
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"hgvs_c": "c.-31+9382G>A",
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"transcript": "XM_047423662.1",
"protein_id": "XP_047279618.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ZNF462",
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"hgvs_c": "c.-31+5184G>A",
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"transcript": "XM_047423663.1",
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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": "ZNF462",
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],
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},
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],
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}