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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: 6-167878290-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=167878290&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 167878290,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000683244.1",
"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": 34,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.740-2070A>G",
"hgvs_p": null,
"transcript": "NM_001386888.1",
"protein_id": "NP_001373817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1831,
"cds_start": -4,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": "ENST00000683244.1",
"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": 34,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.740-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000683244.1",
"protein_id": "ENSP00000507324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1831,
"cds_start": -4,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": "NM_001386888.1",
"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": 33,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.617-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000366806.6",
"protein_id": "ENSP00000355771.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1781,
"cds_start": -4,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5962,
"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": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.740-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000392108.7",
"protein_id": "ENSP00000375956.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1651,
"cds_start": -4,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6812,
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "n.737-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000366809.6",
"protein_id": null,
"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": 4839,
"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": 33,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.737-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000515794.3",
"protein_id": "ENSP00000422166.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1890,
"cds_start": -4,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8000,
"mane_select": null,
"mane_plus": null,
"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": 34,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.737-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000400822.7",
"protein_id": "ENSP00000383623.3",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1834,
"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
},
{
"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": 33,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.740-2070A>G",
"hgvs_p": null,
"transcript": "NM_001366320.2",
"protein_id": "NP_001353249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1824,
"cds_start": -4,
"cds_end": null,
"cds_length": 5475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8132,
"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": 33,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFDN",
"gene_hgnc_id": 7137,
"hgvs_c": "c.740-2070A>G",
"hgvs_p": null,
"transcript": "ENST00000447894.6",
"protein_id": "ENSP00000404595.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1824,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5475,
"mane_select": null,
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "AFDN",
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"hgvs_c": "c.740-2070A>G",
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"transcript": "NM_001366319.2",
"protein_id": "NP_001353248.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "AFDN",
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"hgvs_c": "c.743-2070A>G",
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"transcript": "NM_001366321.2",
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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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