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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: 4-128138260-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128138260&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 128138260,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000326639.11",
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1524+16072A>T",
"hgvs_p": null,
"transcript": "NM_018078.4",
"protein_id": "NP_060548.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": "ENST00000326639.11",
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1524+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000326639.11",
"protein_id": "ENSP00000321997.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": "NM_018078.4",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "n.72+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000507259.5",
"protein_id": "ENSP00000423686.1",
"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": 1513,
"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": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1524+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000649983.2",
"protein_id": "ENSP00000497192.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4828,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1524+16072A>T",
"hgvs_p": null,
"transcript": "NM_001410786.1",
"protein_id": "NP_001397715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5158,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1524+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000704292.1",
"protein_id": "ENSP00000515817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
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"cdna_length": 3976,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.801+16072A>T",
"hgvs_p": null,
"transcript": "NM_001350531.2",
"protein_id": "NP_001337460.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 634,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.1383+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000508819.5",
"protein_id": "ENSP00000427281.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "n.1524+16072A>T",
"hgvs_p": null,
"transcript": "ENST00000704293.1",
"protein_id": "ENSP00000515818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3658,
"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 11,
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"gene_symbol": "LARP1B",
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"hgvs_c": "n.1691+16072A>T",
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"transcript": "NR_146772.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "LARP1B",
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"hgvs_c": "c.2127+16072A>T",
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"transcript": "XM_017008338.2",
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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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"gene_symbol": "LARP1B",
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"hgvs_c": "c.1764+23518A>T",
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},
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],
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"gene_symbol": "LARP1B",
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"hgvs_c": "c.1524+16072A>T",
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}
],
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}