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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: 3-124105614-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124105614&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124105614,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000682506.1",
"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": 60,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.73+71801T>G",
"hgvs_p": null,
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "ENST00000682506.1",
"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": 60,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.73+71801T>G",
"hgvs_p": null,
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "NM_001388419.1",
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.67+10710T>G",
"hgvs_p": null,
"transcript": "ENST00000240874.7",
"protein_id": "ENSP00000240874.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1663,
"cds_start": -4,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6537,
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.67+10710T>G",
"hgvs_p": null,
"transcript": "ENST00000460856.5",
"protein_id": "ENSP00000418611.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1654,
"cds_start": -4,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6509,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.*157+5078T>G",
"hgvs_p": null,
"transcript": "ENST00000483658.2",
"protein_id": "ENSP00000487487.1",
"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": 2670,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.244+10710T>G",
"hgvs_p": null,
"transcript": "ENST00000488825.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1344,
"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": 60,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.67+10710T>G",
"hgvs_p": null,
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
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"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": 60,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.67+10710T>G",
"hgvs_p": null,
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2986,
"cds_start": -4,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10806,
"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": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.67+10710T>G",
"hgvs_p": null,
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2396,
"cds_start": -4,
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"cds_length": 7191,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "KALRN",
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"hgvs_c": "c.73+71801T>G",
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"transcript": "NM_001388417.1",
"protein_id": "NP_001375346.1",
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "KALRN",
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"hgvs_c": "c.67+10710T>G",
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"transcript": "NM_003947.6",
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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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"gene_symbol": "KALRN",
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},
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{
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}
],
"message": null
}