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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: 1-173509656-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173509656&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173509656,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_178527.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val",
"transcript": "NM_178527.4",
"protein_id": "NP_848622.2",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367714.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178527.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val",
"transcript": "ENST00000367714.4",
"protein_id": "ENSP00000356687.3",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367714.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "n.2285C>T",
"hgvs_p": null,
"transcript": "ENST00000466087.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val",
"transcript": "XM_011509426.3",
"protein_id": "XP_011507728.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509426.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val",
"transcript": "XM_017001065.3",
"protein_id": "XP_016856554.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001065.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val",
"transcript": "XM_017001066.2",
"protein_id": "XP_016856555.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001066.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "XM_017001068.3",
"protein_id": "XP_016856557.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001068.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "XM_017001069.3",
"protein_id": "XP_016856558.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001069.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Ala942Val",
"transcript": "XM_017001070.2",
"protein_id": "XP_016856559.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001070.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2813C>T",
"hgvs_p": "p.Ala938Val",
"transcript": "XM_017001071.2",
"protein_id": "XP_016856560.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001071.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2684C>T",
"hgvs_p": "p.Ala895Val",
"transcript": "XM_017001072.3",
"protein_id": "XP_016856561.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001072.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2645C>T",
"hgvs_p": "p.Ala882Val",
"transcript": "XM_017001073.2",
"protein_id": "XP_016856562.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001073.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2645C>T",
"hgvs_p": "p.Ala882Val",
"transcript": "XM_017001074.2",
"protein_id": "XP_016856563.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2645,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001074.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val",
"transcript": "XM_047418169.1",
"protein_id": "XP_047274125.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 880,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418169.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.2204C>T",
"hgvs_p": "p.Ala735Val",
"transcript": "XM_047418170.1",
"protein_id": "XP_047274126.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 880,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418170.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Ala624Val",
"transcript": "XM_017001075.2",
"protein_id": "XP_016856564.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 769,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001075.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "XM_017001076.2",
"protein_id": "XP_016856565.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 687,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001076.2"
}
],
"gene_symbol": "SLC9C2",
"gene_hgnc_id": 28664,
"dbsnp": "rs747161909",
"frequency_reference_population": 0.0000031315685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 6.9228e-7,
"gnomad_genomes_af": 0.0000262912,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040517598390579224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0697,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_178527.4",
"gene_symbol": "SLC9C2",
"hgnc_id": 28664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Ala984Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}