← 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: 3-128807614-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128807614&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128807614,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265062.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "NM_004637.6",
"protein_id": "NP_004628.4",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000265062.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000265062.8",
"protein_id": "ENSP00000265062.3",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_004637.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.330G>C",
"hgvs_p": "p.Lys110Asn",
"transcript": "ENST00000482525.5",
"protein_id": "ENSP00000417668.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 160,
"cds_start": 330,
"cds_end": null,
"cds_length": 483,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000675864.1",
"protein_id": "ENSP00000502566.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 217,
"cds_start": 471,
"cds_end": null,
"cds_length": 654,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000676425.1",
"protein_id": "ENSP00000502084.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 211,
"cds_start": 471,
"cds_end": null,
"cds_length": 636,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000674589.1",
"protein_id": "ENSP00000502088.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000675342.1",
"protein_id": "ENSP00000502486.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000675497.1",
"protein_id": "ENSP00000502000.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn",
"transcript": "ENST00000676214.1",
"protein_id": "ENSP00000501618.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 207,
"cds_start": 471,
"cds_end": null,
"cds_length": 624,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Lys133Asn",
"transcript": "ENST00000674748.1",
"protein_id": "ENSP00000502224.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 183,
"cds_start": 399,
"cds_end": null,
"cds_length": 552,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.252G>C",
"hgvs_p": "p.Lys84Asn",
"transcript": "ENST00000483906.5",
"protein_id": "ENSP00000417155.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 134,
"cds_start": 252,
"cds_end": null,
"cds_length": 405,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*13G>C",
"hgvs_p": null,
"transcript": "ENST00000490093.6",
"protein_id": "ENSP00000418955.2",
"transcript_support_level": 5,
"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": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.469G>C",
"hgvs_p": null,
"transcript": "ENST00000674593.1",
"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": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.1655G>C",
"hgvs_p": null,
"transcript": "ENST00000675712.1",
"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": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*351G>C",
"hgvs_p": null,
"transcript": "ENST00000676147.1",
"protein_id": "ENSP00000501656.1",
"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": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*13G>C",
"hgvs_p": null,
"transcript": "ENST00000490093.6",
"protein_id": "ENSP00000418955.2",
"transcript_support_level": 5,
"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": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.*351G>C",
"hgvs_p": null,
"transcript": "ENST00000676147.1",
"protein_id": "ENSP00000501656.1",
"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": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.148-4G>C",
"hgvs_p": null,
"transcript": "ENST00000493186.6",
"protein_id": "ENSP00000417189.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.181-5713G>C",
"hgvs_p": null,
"transcript": "ENST00000485280.1",
"protein_id": "ENSP00000418283.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.*20G>C",
"hgvs_p": null,
"transcript": "ENST00000464496.5",
"protein_id": "ENSP00000417978.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"dbsnp": "rs121909081",
"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": 0.9621783494949341,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.837,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.169,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PS1",
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265062.8",
"gene_symbol": "RAB7A",
"hgnc_id": 9788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Lys157Asn"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2B,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2B|not provided|Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}