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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: 19-48131041-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48131041&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48131041,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000263274.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1821+35G>T",
"hgvs_p": null,
"transcript": "NM_000234.3",
"protein_id": "NP_000225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "ENST00000263274.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1821+35G>T",
"hgvs_p": null,
"transcript": "ENST00000263274.12",
"protein_id": "ENSP00000263274.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "NM_000234.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1818+35G>T",
"hgvs_p": null,
"transcript": "ENST00000594759.5",
"protein_id": "ENSP00000471380.1",
"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": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1821+35G>T",
"hgvs_p": null,
"transcript": "ENST00000699868.1",
"protein_id": "ENSP00000514664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1818+35G>T",
"hgvs_p": null,
"transcript": "NM_001320970.2",
"protein_id": "NP_001307899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1818+35G>T",
"hgvs_p": null,
"transcript": "ENST00000699866.1",
"protein_id": "ENSP00000514663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1818+35G>T",
"hgvs_p": null,
"transcript": "ENST00000699875.1",
"protein_id": "ENSP00000514671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1731+35G>T",
"hgvs_p": null,
"transcript": "NM_001320971.2",
"protein_id": "NP_001307900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1731+35G>T",
"hgvs_p": null,
"transcript": "ENST00000699874.1",
"protein_id": "ENSP00000514670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1728+35G>T",
"hgvs_p": null,
"transcript": "NM_001289063.2",
"protein_id": "NP_001275992.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 888,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 18,
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"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1728+35G>T",
"hgvs_p": null,
"transcript": "ENST00000427526.6",
"protein_id": "ENSP00000442841.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "LIG1",
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},
{
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],
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"gene_symbol": "LIG1",
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"hgvs_c": "c.1818+35G>T",
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"transcript": "ENST00000699877.1",
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},
{
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],
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"gene_symbol": "LIG1",
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"hgvs_c": "c.1617+35G>T",
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"transcript": "NM_001289064.2",
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},
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],
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"transcript": "ENST00000596549.6",
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},
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],
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},
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],
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"transcript": "ENST00000596457.1",
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},
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],
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"exon_count": 26,
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"gene_symbol": "LIG1",
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"hgvs_c": "n.*879+35G>T",
"hgvs_p": null,
"transcript": "ENST00000596672.6",
"protein_id": "ENSP00000472331.2",
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},
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],
"exon_rank": null,
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"intron_rank": 6,
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"hgvs_c": "n.2500+35G>T",
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},
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],
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},
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],
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"gene_symbol": "LIG1",
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"hgvs_c": "n.*145+35G>T",
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"transcript": "ENST00000699869.1",
"protein_id": "ENSP00000514665.1",
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "LIG1",
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"hgvs_c": "n.*145+35G>T",
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"transcript": "ENST00000699870.1",
"protein_id": "ENSP00000514666.1",
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},
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}