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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: 6-146434417-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=146434417&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 146434417,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000282753.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "NM_001278064.2",
"protein_id": "NP_001264993.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3662,
"cdna_end": null,
"cdna_length": 6846,
"mane_select": "ENST00000282753.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "ENST00000282753.6",
"protein_id": "ENSP00000282753.1",
"transcript_support_level": 1,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3662,
"cdna_end": null,
"cdna_length": 6846,
"mane_select": "NM_001278064.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*444C>T",
"hgvs_p": null,
"transcript": "ENST00000355289.8",
"protein_id": "ENSP00000347437.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": -4,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*570C>T",
"hgvs_p": null,
"transcript": "ENST00000492807.6",
"protein_id": "ENSP00000424095.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*535C>T",
"hgvs_p": null,
"transcript": "ENST00000507907.1",
"protein_id": "ENSP00000425599.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "ENST00000361719.6",
"protein_id": "ENSP00000354896.2",
"transcript_support_level": 5,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "ENST00000706833.1",
"protein_id": "ENSP00000516579.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3654,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "ENST00000706835.1",
"protein_id": "ENSP00000516581.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "XM_011535782.2",
"protein_id": "XP_011534084.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "XM_017010783.2",
"protein_id": "XP_016866272.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 6796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu",
"transcript": "XM_017010784.2",
"protein_id": "XP_016866273.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Pro660Leu",
"transcript": "XM_017010788.2",
"protein_id": "XP_016866277.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 785,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*444C>T",
"hgvs_p": null,
"transcript": "NM_001278067.1",
"protein_id": "NP_001264996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": -4,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*570C>T",
"hgvs_p": null,
"transcript": "NM_001278065.2",
"protein_id": "NP_001264994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*535C>T",
"hgvs_p": null,
"transcript": "NM_001278066.1",
"protein_id": "NP_001264995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*535C>T",
"hgvs_p": null,
"transcript": "ENST00000706834.1",
"protein_id": "ENSP00000516580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.*570C>T",
"hgvs_p": null,
"transcript": "ENST00000706836.1",
"protein_id": "ENSP00000516582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"dbsnp": "rs79336287",
"frequency_reference_population": 0.0012742059,
"hom_count_reference_population": 6,
"allele_count_reference_population": 2056,
"gnomad_exomes_af": 0.00107103,
"gnomad_genomes_af": 0.00322301,
"gnomad_exomes_ac": 1565,
"gnomad_genomes_ac": 491,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004310309886932373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.276,
"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": -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": "ENST00000282753.6",
"gene_symbol": "GRM1",
"hgnc_id": 4593,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3206C>T",
"hgvs_p": "p.Pro1069Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}