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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: 17-30522305-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30522305&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30522305,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004871.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "NM_001007025.2",
"protein_id": "NP_001007026.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 248,
"cds_start": 674,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451249.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007025.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000451249.7",
"protein_id": "ENSP00000414441.2",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 248,
"cds_start": 674,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007025.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451249.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"transcript": "ENST00000225724.9",
"protein_id": "ENSP00000225724.5",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 250,
"cds_start": 680,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225724.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "ENST00000467337.6",
"protein_id": "ENSP00000462638.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 185,
"cds_start": 485,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467337.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Arg260Gln",
"transcript": "ENST00000955362.1",
"protein_id": "ENSP00000625421.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 283,
"cds_start": 779,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955362.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000915315.1",
"protein_id": "ENSP00000585374.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 259,
"cds_start": 707,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915315.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000414833.2",
"protein_id": "ENSP00000414956.2",
"transcript_support_level": 3,
"aa_start": 231,
"aa_end": null,
"aa_length": 254,
"cds_start": 692,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414833.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"transcript": "NM_004871.3",
"protein_id": "NP_004862.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 250,
"cds_start": 680,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004871.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "ENST00000870797.1",
"protein_id": "ENSP00000540856.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 238,
"cds_start": 644,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870797.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Gln",
"transcript": "ENST00000581721.5",
"protein_id": "ENSP00000465115.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 236,
"cds_start": 638,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581721.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "NM_001007024.2",
"protein_id": "NP_001007025.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 185,
"cds_start": 485,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007024.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"transcript": "XM_005258070.6",
"protein_id": "XP_005258127.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 300,
"cds_start": 830,
"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": "XM_005258070.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_005258071.6",
"protein_id": "XP_005258128.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 298,
"cds_start": 824,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258071.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "XM_017025374.3",
"protein_id": "XP_016880863.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 290,
"cds_start": 800,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025374.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Gln",
"transcript": "XM_047437109.1",
"protein_id": "XP_047293065.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 288,
"cds_start": 794,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437109.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_017025375.3",
"protein_id": "XP_016880864.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 240,
"cds_start": 650,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025375.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "XM_017025376.3",
"protein_id": "XP_016880865.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 238,
"cds_start": 644,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025376.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "XM_005258072.4",
"protein_id": "XP_005258129.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 185,
"cds_start": 485,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258072.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "XM_047437110.1",
"protein_id": "XP_047293066.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 185,
"cds_start": 485,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437110.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "XM_047437111.1",
"protein_id": "XP_047293067.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 185,
"cds_start": 485,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437111.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "n.375G>A",
"hgvs_p": null,
"transcript": "ENST00000477885.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000477885.1"
},
{
"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": "GOSR1",
"gene_hgnc_id": 4430,
"hgvs_c": "n.452G>A",
"hgvs_p": null,
"transcript": "ENST00000494918.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000494918.1"
}
],
"gene_symbol": "GOSR1",
"gene_hgnc_id": 4430,
"dbsnp": "rs761237681",
"frequency_reference_population": 0.000011799234,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109732,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6525521278381348,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2478,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.3,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004871.3",
"gene_symbol": "GOSR1",
"hgnc_id": 4430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}