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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: 7-99423912-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99423912&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99423912,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198879.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "NM_015545.4",
"protein_id": "NP_056360.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "ENST00000292478.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015545.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000292478.9",
"protein_id": "ENSP00000292478.5",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "NM_015545.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292478.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Asn644Asp",
"transcript": "ENST00000413834.5",
"protein_id": "ENSP00000400168.1",
"transcript_support_level": 2,
"aa_start": 644,
"aa_end": null,
"aa_length": 749,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413834.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Asn644Asp",
"transcript": "NM_001198879.2",
"protein_id": "NP_001185808.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 749,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198879.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000910801.1",
"protein_id": "ENSP00000580860.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910801.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000926566.1",
"protein_id": "ENSP00000596625.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926566.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000926567.1",
"protein_id": "ENSP00000596626.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926567.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000926568.1",
"protein_id": "ENSP00000596627.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926568.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000926569.1",
"protein_id": "ENSP00000596628.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926569.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp",
"transcript": "ENST00000926570.1",
"protein_id": "ENSP00000596629.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 700,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926570.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Asn594Asp",
"transcript": "ENST00000926564.1",
"protein_id": "ENSP00000596623.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 699,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926564.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Asn574Asp",
"transcript": "ENST00000910800.1",
"protein_id": "ENSP00000580859.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 679,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910800.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Asn548Asp",
"transcript": "ENST00000910799.1",
"protein_id": "ENSP00000580858.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 653,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910799.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.1737+883A>G",
"hgvs_p": null,
"transcript": "ENST00000926565.1",
"protein_id": "ENSP00000596624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926565.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.916-3763A>G",
"hgvs_p": null,
"transcript": "ENST00000966185.1",
"protein_id": "ENSP00000636244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966185.1"
}
],
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"dbsnp": "rs781654991",
"frequency_reference_population": 0.0000030978551,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.0000131467,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16162937879562378,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1386,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.489,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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_001198879.2",
"gene_symbol": "ATP5MF-PTCD1",
"hgnc_id": 38844,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Asn644Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015545.4",
"gene_symbol": "PTCD1",
"hgnc_id": 22198,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Asn595Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}