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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: 2-161949250-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161949250&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161949250,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000446997.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Ser790Gly",
"transcript": "NM_001178015.2",
"protein_id": "NP_001171486.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "ENST00000446997.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Ser790Gly",
"transcript": "ENST00000446997.6",
"protein_id": "ENSP00000393066.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": "NM_001178015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ser760Gly",
"transcript": "ENST00000415876.6",
"protein_id": "ENSP00000395797.2",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Ser790Gly",
"transcript": "NM_001354440.2",
"protein_id": "NP_001341369.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Ser802Gly",
"transcript": "NM_001354460.2",
"protein_id": "NP_001341389.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Ser802Gly",
"transcript": "NM_001354461.2",
"protein_id": "NP_001341390.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 5848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2401A>G",
"hgvs_p": "p.Ser801Gly",
"transcript": "NM_001354441.2",
"protein_id": "NP_001341370.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2401,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2401A>G",
"hgvs_p": "p.Ser801Gly",
"transcript": "NM_001354442.2",
"protein_id": "NP_001341371.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2401,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ser772Gly",
"transcript": "NM_001354443.2",
"protein_id": "NP_001341372.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Ser789Gly",
"transcript": "NM_001354444.2",
"protein_id": "NP_001341373.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2365,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_001354445.2",
"protein_id": "NP_001341374.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2311,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ser760Gly",
"transcript": "NM_001354446.2",
"protein_id": "NP_001341375.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ser760Gly",
"transcript": "ENST00000272716.9",
"protein_id": "ENSP00000272716.5",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ser772Gly",
"transcript": "NM_001354447.2",
"protein_id": "NP_001341376.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_001178016.2",
"protein_id": "NP_001171487.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2311,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000375514.9",
"protein_id": "ENSP00000364664.5",
"transcript_support_level": 2,
"aa_start": 771,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2311,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Ser770Gly",
"transcript": "NM_001354448.2",
"protein_id": "NP_001341377.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ser760Gly",
"transcript": "NM_022058.4",
"protein_id": "NP_071341.2",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2275A>G",
"hgvs_p": "p.Ser759Gly",
"transcript": "NM_001354449.2",
"protein_id": "NP_001341378.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2275,
"cds_end": null,
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"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Ser760Gly",
"transcript": "NM_001354450.2",
"protein_id": "NP_001341379.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2275A>G",
"hgvs_p": "p.Ser759Gly",
"transcript": "NM_001354451.2",
"protein_id": "NP_001341380.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2275,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A10",
"gene_hgnc_id": 13811,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Ser790Gly",
"transcript": "ENST00000421911.1",
"protein_id": "ENSP00000404486.1",
"transcript_support_level": 5,
"aa_start": 790,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
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],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}