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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: 3-128798056-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128798056&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128798056,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265062.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "NM_004637.6",
"protein_id": "NP_004628.4",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000265062.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000265062.8",
"protein_id": "ENSP00000265062.3",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_004637.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000482525.5",
"protein_id": "ENSP00000417668.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 160,
"cds_start": 167,
"cds_end": null,
"cds_length": 483,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000675864.1",
"protein_id": "ENSP00000502566.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 217,
"cds_start": 167,
"cds_end": null,
"cds_length": 654,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000676425.1",
"protein_id": "ENSP00000502084.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 211,
"cds_start": 167,
"cds_end": null,
"cds_length": 636,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000674589.1",
"protein_id": "ENSP00000502088.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000675342.1",
"protein_id": "ENSP00000502486.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000675497.1",
"protein_id": "ENSP00000502000.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000676214.1",
"protein_id": "ENSP00000501618.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 207,
"cds_start": 167,
"cds_end": null,
"cds_length": 624,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Leu32Pro",
"transcript": "ENST00000674748.1",
"protein_id": "ENSP00000502224.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 183,
"cds_start": 95,
"cds_end": null,
"cds_length": 552,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000464496.5",
"protein_id": "ENSP00000417978.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 149,
"cds_start": 167,
"cds_end": null,
"cds_length": 451,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000483906.5",
"protein_id": "ENSP00000417155.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 134,
"cds_start": 167,
"cds_end": null,
"cds_length": 405,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro",
"transcript": "ENST00000485280.1",
"protein_id": "ENSP00000418283.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 91,
"cds_start": 167,
"cds_end": null,
"cds_length": 276,
"cdna_start": 176,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.167T>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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.183T>C",
"hgvs_p": null,
"transcript": "ENST00000491681.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 552,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.399T>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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"hgvs_c": "n.86T>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": [
"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.147+20T>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
}
],
"gene_symbol": "RAB7A",
"gene_hgnc_id": 9788,
"dbsnp": "rs775104487",
"frequency_reference_population": 0.000038414546,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000396784,
"gnomad_genomes_af": 0.0000262781,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36136484146118164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.466,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.36,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000265062.8",
"gene_symbol": "RAB7A",
"hgnc_id": 9788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Leu56Pro"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2B,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Charcot-Marie-Tooth disease type 2B|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}