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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: 22-42693404-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42693404&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42693404,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000642412.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "NM_017436.7",
"protein_id": "NP_059132.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": "ENST00000642412.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "ENST00000642412.2",
"protein_id": "ENSP00000494127.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": "NM_017436.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "ENST00000249005.3",
"protein_id": "ENSP00000249005.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "ENST00000401850.5",
"protein_id": "ENSP00000384794.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "NM_001318038.3",
"protein_id": "NP_001304967.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "ENST00000381278.4",
"protein_id": "ENSP00000370678.3",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_005261644.3",
"protein_id": "XP_005261701.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_005261646.5",
"protein_id": "XP_005261703.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_005261647.4",
"protein_id": "XP_005261704.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_005261648.5",
"protein_id": "XP_005261705.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_006724265.4",
"protein_id": "XP_006724328.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_006724266.4",
"protein_id": "XP_006724329.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_011530233.3",
"protein_id": "XP_011528535.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_017028831.2",
"protein_id": "XP_016884320.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr",
"transcript": "XM_047441412.1",
"protein_id": "XP_047297368.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 353,
"cds_start": 548,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.-49+27393T>C",
"hgvs_p": null,
"transcript": "ENST00000686129.1",
"protein_id": "ENSP00000508623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"dbsnp": "rs74315453",
"frequency_reference_population": 0.0000020534444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205344,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6227823495864868,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.569,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5385,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.312,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642412.2",
"gene_symbol": "A4GALT",
"hgnc_id": 18149,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Met183Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000686129.1",
"gene_symbol": "CYB5R3",
"hgnc_id": 2873,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-49+27393T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}