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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: 20-56518145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=56518145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 56518145,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001283035.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Arg267Arg",
"transcript": "NM_016407.5",
"protein_id": "NP_057491.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 306,
"cds_start": 801,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357348.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016407.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Arg267Arg",
"transcript": "ENST00000357348.10",
"protein_id": "ENSP00000349906.6",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 306,
"cds_start": 801,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016407.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357348.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCNT7",
"gene_hgnc_id": 16099,
"hgvs_c": "c.-929-3840C>T",
"hgvs_p": null,
"transcript": "ENST00000243913.8",
"protein_id": "ENSP00000243913.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243913.8"
},
{
"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": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "n.1451G>A",
"hgvs_p": null,
"transcript": "ENST00000477573.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477573.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Arg297Arg",
"transcript": "NM_001283035.2",
"protein_id": "NP_001269964.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 336,
"cds_start": 891,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283035.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Arg297Arg",
"transcript": "ENST00000023939.8",
"protein_id": "ENSP00000023939.5",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 336,
"cds_start": 891,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000023939.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"transcript": "NM_001283036.2",
"protein_id": "NP_001269965.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 305,
"cds_start": 798,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283036.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"transcript": "ENST00000886934.1",
"protein_id": "ENSP00000556993.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 305,
"cds_start": 798,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886934.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Arg264Arg",
"transcript": "ENST00000886937.1",
"protein_id": "ENSP00000556996.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 303,
"cds_start": 792,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886937.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Arg264Arg",
"transcript": "ENST00000886938.1",
"protein_id": "ENSP00000556997.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 303,
"cds_start": 792,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886938.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Arg264Arg",
"transcript": "ENST00000923345.1",
"protein_id": "ENSP00000593404.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 303,
"cds_start": 792,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923345.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Arg261Arg",
"transcript": "ENST00000886935.1",
"protein_id": "ENSP00000556994.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 300,
"cds_start": 783,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886935.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Arg229Arg",
"transcript": "ENST00000886933.1",
"protein_id": "ENSP00000556992.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 268,
"cds_start": 687,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886933.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.612G>A",
"hgvs_p": "p.Arg204Arg",
"transcript": "ENST00000886936.1",
"protein_id": "ENSP00000556995.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 243,
"cds_start": 612,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886936.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Arg131Arg",
"transcript": "ENST00000923346.1",
"protein_id": "ENSP00000593405.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 170,
"cds_start": 393,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923346.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Arg248Arg",
"transcript": "XM_017027872.2",
"protein_id": "XP_016883361.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 287,
"cds_start": 744,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027872.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Arg248Arg",
"transcript": "XM_047440189.1",
"protein_id": "XP_047296145.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 287,
"cds_start": 744,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440189.1"
},
{
"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": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "NM_001283037.2",
"protein_id": "NP_001269966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283037.2"
},
{
"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": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "ENST00000395881.7",
"protein_id": "ENSP00000379220.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395881.7"
},
{
"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": "RTF2",
"gene_hgnc_id": 15890,
"hgvs_c": "n.364G>A",
"hgvs_p": null,
"transcript": "ENST00000477485.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM209A",
"gene_hgnc_id": 16100,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000481560.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCNT7",
"gene_hgnc_id": 16099,
"hgvs_c": "n.144-3840C>T",
"hgvs_p": null,
"transcript": "NR_160308.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160308.1"
}
],
"gene_symbol": "RTF2",
"gene_hgnc_id": 15890,
"dbsnp": "rs909627368",
"frequency_reference_population": 0.0000020522418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205224,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.639,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001283035.2",
"gene_symbol": "RTF2",
"hgnc_id": 15890,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Arg297Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000243913.8",
"gene_symbol": "GCNT7",
"hgnc_id": 16099,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-929-3840C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000481560.1",
"gene_symbol": "FAM209A",
"hgnc_id": 16100,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.74G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}