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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: 8-42856296-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42856296&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42856296,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000527424.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "NM_030954.4",
"protein_id": "NP_112216.3",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "ENST00000527424.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "ENST00000527424.6",
"protein_id": "ENSP00000434797.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "NM_030954.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "ENST00000534961.5",
"protein_id": "ENSP00000445725.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000526349.5",
"protein_id": "ENSP00000435782.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 174,
"cds_start": 388,
"cds_end": null,
"cds_length": 525,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.397-5299A>G",
"hgvs_p": null,
"transcript": "ENST00000319104.7",
"protein_id": "ENSP00000326138.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "NM_001160223.2",
"protein_id": "NP_001153695.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001160225.2",
"protein_id": "NP_001153697.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 174,
"cds_start": 388,
"cds_end": null,
"cds_length": 525,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.661A>G",
"hgvs_p": "p.Ile221Val",
"transcript": "XM_047422278.1",
"protein_id": "XP_047278234.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 265,
"cds_start": 661,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "XM_006716404.3",
"protein_id": "XP_006716467.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "XM_011544666.4",
"protein_id": "XP_011542968.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "XM_017013881.2",
"protein_id": "XP_016869370.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "XM_047422279.1",
"protein_id": "XP_047278235.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 640,
"cds_end": null,
"cds_length": 777,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.511A>G",
"hgvs_p": "p.Ile171Val",
"transcript": "XM_047422280.1",
"protein_id": "XP_047278236.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 215,
"cds_start": 511,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "XM_006716405.4",
"protein_id": "XP_006716468.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 208,
"cds_start": 490,
"cds_end": null,
"cds_length": 627,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "XM_047422281.1",
"protein_id": "XP_047278237.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 208,
"cds_start": 490,
"cds_end": null,
"cds_length": 627,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "XM_047422282.1",
"protein_id": "XP_047278238.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 174,
"cds_start": 388,
"cds_end": null,
"cds_length": 525,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3523,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "n.*215A>G",
"hgvs_p": null,
"transcript": "ENST00000240159.8",
"protein_id": "ENSP00000240159.4",
"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": 2023,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "n.925A>G",
"hgvs_p": null,
"transcript": "NR_027668.2",
"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": 3920,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "n.695A>G",
"hgvs_p": null,
"transcript": "NR_027669.2",
"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": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.*215A>G",
"hgvs_p": null,
"transcript": "ENST00000319073.5",
"protein_id": "ENSP00000325969.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "n.*215A>G",
"hgvs_p": null,
"transcript": "ENST00000240159.8",
"protein_id": "ENSP00000240159.4",
"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": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.397-5299A>G",
"hgvs_p": null,
"transcript": "NM_001160224.2",
"protein_id": "NP_001153696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286837",
"gene_hgnc_id": null,
"hgvs_c": "n.532+12424T>C",
"hgvs_p": null,
"transcript": "ENST00000797430.1",
"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": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"dbsnp": "rs587780441",
"frequency_reference_population": 0.00012478918,
"hom_count_reference_population": 5,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000130367,
"gnomad_genomes_af": 0.000072242,
"gnomad_exomes_ac": 187,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014598697423934937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.0735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.496,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000527424.6",
"gene_symbol": "RNF170",
"hgnc_id": 25358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val"
},
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000797430.1",
"gene_symbol": "ENSG00000286837",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.532+12424T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant sensory ataxia 1,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:2",
"phenotype_combined": "Autosomal dominant sensory ataxia 1|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}