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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: 1-94862651-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94862651&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 94862651,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000271227.11",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1239-2092G>A",
"hgvs_p": null,
"transcript": "NM_001114106.3",
"protein_id": "NP_001107578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": "ENST00000271227.11",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1239-2092G>A",
"hgvs_p": null,
"transcript": "ENST00000271227.11",
"protein_id": "ENSP00000271227.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": "NM_001114106.3",
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1095-2092G>A",
"hgvs_p": null,
"transcript": "ENST00000467909.5",
"protein_id": "ENSP00000432789.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "n.*962-2092G>A",
"hgvs_p": null,
"transcript": "ENST00000475883.5",
"protein_id": "ENSP00000434457.1",
"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": 2067,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1239-2092G>A",
"hgvs_p": null,
"transcript": "NM_001258340.2",
"protein_id": "NP_001245269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1143-2092G>A",
"hgvs_p": null,
"transcript": "NM_001258341.2",
"protein_id": "NP_001245270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2282,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1143-2092G>A",
"hgvs_p": null,
"transcript": "ENST00000529450.5",
"protein_id": "ENSP00000431836.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2045,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1131-2092G>A",
"hgvs_p": null,
"transcript": "NM_001258342.2",
"protein_id": "NP_001245271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2273,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.1131-2092G>A",
"hgvs_p": null,
"transcript": "ENST00000446120.6",
"protein_id": "ENSP00000389143.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "SLC44A3",
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"hgvs_c": "c.1095-2092G>A",
"hgvs_p": null,
"transcript": "NM_152369.5",
"protein_id": "NP_689582.2",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "SLC44A3",
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"hgvs_c": "c.1035-2092G>A",
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"transcript": "NM_001258343.2",
"protein_id": "NP_001245272.1",
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},
{
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],
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},
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],
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},
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],
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"gene_symbol": "SLC44A3",
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],
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},
{
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],
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"gene_symbol": "SLC44A3",
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],
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},
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],
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"gene_symbol": "SLC44A3",
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"hgvs_c": "c.1143-2092G>A",
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"transcript": "XM_005270440.3",
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"hgvs_c": "c.1131-2092G>A",
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],
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],
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"gene_symbol": "SLC44A3",
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"hgvs_c": "c.1035-2092G>A",
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},
{
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],
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"gene_symbol": "SLC44A3",
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"hgvs_c": "c.1239-2092G>A",
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"transcript": "XM_005270442.3",
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}