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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: 6-72291914-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=72291914&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 72291914,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_014989.7",
"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": 25,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3738-20G>A",
"hgvs_p": null,
"transcript": "NM_014989.7",
"protein_id": "NP_055804.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1692,
"cds_start": -4,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "ENST00000521978.6",
"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": 25,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3738-20G>A",
"hgvs_p": null,
"transcript": "ENST00000521978.6",
"protein_id": "ENSP00000428417.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1692,
"cds_start": -4,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "NM_014989.7",
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1458-20G>A",
"hgvs_p": null,
"transcript": "ENST00000425662.6",
"protein_id": "ENSP00000411235.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2799,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.882-20G>A",
"hgvs_p": null,
"transcript": "ENST00000370420.8",
"protein_id": "ENSP00000359448.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2223,
"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": 21,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3285-20G>A",
"hgvs_p": null,
"transcript": "ENST00000264839.11",
"protein_id": "ENSP00000264839.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1541,
"cds_start": -4,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7055,
"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": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3207-20G>A",
"hgvs_p": null,
"transcript": "ENST00000697193.1",
"protein_id": "ENSP00000513179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1515,
"cds_start": -4,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7458,
"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": 28,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3207-20G>A",
"hgvs_p": null,
"transcript": "ENST00000491071.6",
"protein_id": "ENSP00000430101.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5047,
"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": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3114-20G>A",
"hgvs_p": null,
"transcript": "ENST00000517960.5",
"protein_id": "ENSP00000429959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": -4,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4428,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3291-20G>A",
"hgvs_p": null,
"transcript": "ENST00000518273.5",
"protein_id": "ENSP00000430408.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3204-20G>A",
"hgvs_p": null,
"transcript": "ENST00000520567.5",
"protein_id": "ENSP00000430502.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": -4,
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"cds_length": 4029,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3051-20G>A",
"hgvs_p": null,
"transcript": "ENST00000522291.5",
"protein_id": "ENSP00000430932.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1890-20G>A",
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"transcript": "NM_001350436.2",
"protein_id": "NP_001337365.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
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"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1884-20G>A",
"hgvs_p": null,
"transcript": "NM_001350446.2",
"protein_id": "NP_001337375.1",
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},
{
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],
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"exon_count": 26,
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"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1881-20G>A",
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"transcript": "NM_001350456.2",
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},
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"strand": true,
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],
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"gene_symbol": "RIMS1",
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"transcript": "NM_001350420.2",
"protein_id": "NP_001337349.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1794-20G>A",
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"transcript": "NM_001350431.2",
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},
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],
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1785-20G>A",
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"transcript": "NM_001350433.2",
"protein_id": "NP_001337362.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 22,
"intron_rank": 13,
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"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1773-20G>A",
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"transcript": "ENST00000517433.5",
"protein_id": "ENSP00000430359.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RIMS1",
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"hgvs_c": "c.1782-20G>A",
"hgvs_p": null,
"transcript": "NM_001350415.2",
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},
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],
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"gene_symbol": "RIMS1",
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},
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],
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"gene_symbol": "RIMS1",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 16,
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"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1701-20G>A",
"hgvs_p": null,
"transcript": "NM_001350416.2",
"protein_id": "NP_001337345.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1701-20G>A",
"hgvs_p": null,
"transcript": "NM_001350448.2",
"protein_id": "NP_001337377.1",
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],
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"splice_prediction_selected": "Benign",
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{
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"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}