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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: 7-99967079-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99967079&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99967079,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001185.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Asp274Gly",
"transcript": "NM_001185.4",
"protein_id": "NP_001176.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 298,
"cds_start": 821,
"cds_end": null,
"cds_length": 897,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": "ENST00000292401.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Asp274Gly",
"transcript": "ENST00000292401.9",
"protein_id": "ENSP00000292401.4",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 298,
"cds_start": 821,
"cds_end": null,
"cds_length": 897,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": "NM_001185.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292401.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.*996A>G",
"hgvs_p": null,
"transcript": "ENST00000411734.1",
"protein_id": "ENSP00000396093.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411734.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asp303Gly",
"transcript": "ENST00000868286.1",
"protein_id": "ENSP00000538345.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 327,
"cds_start": 908,
"cds_end": null,
"cds_length": 984,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868286.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.851A>G",
"hgvs_p": "p.Asp284Gly",
"transcript": "ENST00000868291.1",
"protein_id": "ENSP00000538350.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 308,
"cds_start": 851,
"cds_end": null,
"cds_length": 927,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868291.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asp272Gly",
"transcript": "ENST00000868292.1",
"protein_id": "ENSP00000538351.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 296,
"cds_start": 815,
"cds_end": null,
"cds_length": 891,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868292.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asp237Gly",
"transcript": "ENST00000868290.1",
"protein_id": "ENSP00000538349.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 261,
"cds_start": 710,
"cds_end": null,
"cds_length": 786,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868290.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Asp234Gly",
"transcript": "ENST00000868289.1",
"protein_id": "ENSP00000538348.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 258,
"cds_start": 701,
"cds_end": null,
"cds_length": 777,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868289.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asp227Gly",
"transcript": "ENST00000868287.1",
"protein_id": "ENSP00000538346.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 251,
"cds_start": 680,
"cds_end": null,
"cds_length": 756,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868287.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000868283.1",
"protein_id": "ENSP00000538342.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 250,
"cds_start": 677,
"cds_end": null,
"cds_length": 753,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868283.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Asp218Gly",
"transcript": "ENST00000868282.1",
"protein_id": "ENSP00000538341.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 242,
"cds_start": 653,
"cds_end": null,
"cds_length": 729,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868282.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Asp187Gly",
"transcript": "ENST00000868285.1",
"protein_id": "ENSP00000538344.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 211,
"cds_start": 560,
"cds_end": null,
"cds_length": 636,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868285.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.545A>G",
"hgvs_p": "p.Asp182Gly",
"transcript": "ENST00000868284.1",
"protein_id": "ENSP00000538343.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 206,
"cds_start": 545,
"cds_end": null,
"cds_length": 621,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.*114A>G",
"hgvs_p": null,
"transcript": "ENST00000419575.1",
"protein_id": "ENSP00000389942.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.508-68A>G",
"hgvs_p": null,
"transcript": "ENST00000868288.1",
"protein_id": "ENSP00000538347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "n.320A>G",
"hgvs_p": null,
"transcript": "ENST00000483612.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "n.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000477251.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477251.1"
}
],
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"dbsnp": "rs376472652",
"frequency_reference_population": 0.0000018587015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": 0.000013146,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12955668568611145,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.2815,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001185.4",
"gene_symbol": "AZGP1",
"hgnc_id": 910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Asp274Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}