← Back to variant description
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: 3-50302212-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50302212&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50302212,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000395144.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "NM_033159.4",
"protein_id": "NP_149349.2",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": "ENST00000395144.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "ENST00000395144.7",
"protein_id": "ENSP00000378576.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": "NM_033159.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "ENST00000266031.8",
"protein_id": "ENSP00000266031.4",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "ENST00000395143.6",
"protein_id": "ENSP00000378575.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 405,
"cds_start": 745,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"transcript": "ENST00000457214.6",
"protein_id": "ENSP00000393358.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 253,
"cds_start": 199,
"cds_end": null,
"cds_length": 762,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.-26-7C>T",
"hgvs_p": null,
"transcript": "ENST00000447605.2",
"protein_id": "ENSP00000390149.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "NM_153281.2",
"protein_id": "NP_695013.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "ENST00000320295.12",
"protein_id": "ENSP00000346068.5",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "ENST00000618175.4",
"protein_id": "ENSP00000477903.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "NM_153282.3",
"protein_id": "NP_695014.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 405,
"cds_start": 745,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"transcript": "NM_153283.3",
"protein_id": "NP_695015.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 253,
"cds_start": 199,
"cds_end": null,
"cds_length": 762,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser",
"transcript": "XM_011533668.3",
"protein_id": "XP_011531970.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 435,
"cds_start": 745,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2118,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "n.1363C>T",
"hgvs_p": null,
"transcript": "NR_047690.2",
"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": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"hgvs_c": "c.-26-7C>T",
"hgvs_p": null,
"transcript": "NM_153285.3",
"protein_id": "NP_695017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HYAL1",
"gene_hgnc_id": 5320,
"dbsnp": "rs138951582",
"frequency_reference_population": 0.00084006856,
"hom_count_reference_population": 16,
"allele_count_reference_population": 1356,
"gnomad_exomes_af": 0.000826377,
"gnomad_genomes_af": 0.000971435,
"gnomad_exomes_ac": 1208,
"gnomad_genomes_ac": 148,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0040212273597717285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.2353,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.461,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000395144.7",
"gene_symbol": "HYAL1",
"hgnc_id": 5320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Pro249Ser"
}
],
"clinvar_disease": "Deficiency of hyaluronoglucosaminidase,HYAL1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|HYAL1-related disorder|Deficiency of hyaluronoglucosaminidase",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}