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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: 2-222297150-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222297150&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222297150,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000392070.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_181458.4",
"protein_id": "NP_852123.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 484,
"cds_start": 149,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "ENST00000392070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000392070.7",
"protein_id": "ENSP00000375922.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 484,
"cds_start": 149,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "NM_181458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000409551.7",
"protein_id": "ENSP00000386750.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 483,
"cds_start": 149,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000336840.11",
"protein_id": "ENSP00000338767.5",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 407,
"cds_start": 149,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000344493.9",
"protein_id": "ENSP00000342092.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 403,
"cds_start": 149,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000409828.7",
"protein_id": "ENSP00000386817.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 215,
"cds_start": 149,
"cds_end": null,
"cds_length": 648,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000258387.6",
"protein_id": "ENSP00000258387.5",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 206,
"cds_start": 149,
"cds_end": null,
"cds_length": 621,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_181459.4",
"protein_id": "NP_852124.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 505,
"cds_start": 149,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000392069.6",
"protein_id": "ENSP00000375921.2",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 505,
"cds_start": 149,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_001127366.3",
"protein_id": "NP_001120838.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 483,
"cds_start": 149,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_181457.4",
"protein_id": "NP_852122.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 479,
"cds_start": 149,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000350526.9",
"protein_id": "ENSP00000343052.4",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 479,
"cds_start": 149,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_181460.4",
"protein_id": "NP_852125.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 407,
"cds_start": 149,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_181461.4",
"protein_id": "NP_852126.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 403,
"cds_start": 149,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_000438.6",
"protein_id": "NP_000429.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 215,
"cds_start": 149,
"cds_end": null,
"cds_length": 648,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_013942.5",
"protein_id": "NP_039230.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 206,
"cds_start": 149,
"cds_end": null,
"cds_length": 621,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000647467.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"dbsnp": "rs104893650",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9932526350021362,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.969,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.61,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.998,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000392070.7",
"gene_symbol": "PAX3",
"hgnc_id": 8617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu"
}
],
"clinvar_disease": "Waardenburg syndrome type 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Waardenburg syndrome type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}