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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: 20-58909542-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58909542&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58909542,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080425.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2610G>C",
"hgvs_p": "p.Gln870His",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2610,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000371100.9",
"biotype": "protein_coding",
"feature": "NM_080425.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2610G>C",
"hgvs_p": "p.Gln870His",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 870,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2610,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_080425.4",
"biotype": "protein_coding",
"feature": "ENST00000371100.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.681G>C",
"hgvs_p": "p.Gln227His",
"transcript": "NM_000516.7",
"protein_id": "NP_000507.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 394,
"cds_start": 681,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371085.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000516.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.681G>C",
"hgvs_p": "p.Gln227His",
"transcript": "ENST00000371085.8",
"protein_id": "ENSP00000360126.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 394,
"cds_start": 681,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000516.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371085.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2613G>C",
"hgvs_p": "p.Gln871His",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676826.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2568G>C",
"hgvs_p": "p.Gln856His",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 856,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371102.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.684G>C",
"hgvs_p": "p.Gln228His",
"transcript": "ENST00000354359.12",
"protein_id": "ENSP00000346328.7",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 395,
"cds_start": 684,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354359.12"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Gln213His",
"transcript": "ENST00000371095.7",
"protein_id": "ENSP00000360136.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 380,
"cds_start": 639,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371095.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.636G>C",
"hgvs_p": "p.Gln212His",
"transcript": "ENST00000265620.11",
"protein_id": "ENSP00000265620.7",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 379,
"cds_start": 636,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265620.11"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000470512.6",
"protein_id": "ENSP00000499552.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 507,
"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": "ENST00000470512.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000480232.6",
"protein_id": "ENSP00000499545.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 507,
"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": "ENST00000480232.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 336,
"cds_start": 507,
"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": "ENST00000663479.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Gln168His",
"transcript": "ENST00000477931.5",
"protein_id": "ENSP00000499660.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 335,
"cds_start": 504,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477931.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462499.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467227.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000478585.6",
"protein_id": "ENSP00000499762.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478585.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000481039.6",
"protein_id": "ENSP00000499767.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481039.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000485673.6",
"protein_id": "ENSP00000499334.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485673.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000488546.6",
"protein_id": "ENSP00000499332.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488546.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.462G>C",
"hgvs_p": "p.Gln154His",
"transcript": "ENST00000492907.6",
"protein_id": "ENSP00000499443.2",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 321,
"cds_start": 462,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492907.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*587G>C",
"hgvs_p": null,
"transcript": "NM_016592.5",
"protein_id": "NP_057676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": "protein_coding",
"feature": "NM_016592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*587G>C",
"hgvs_p": null,
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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{
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{
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"transcript": "ENST00000494081.5",
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],
"gene_symbol": "GNAS",
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"dbsnp": "rs137854533",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.952448308467865,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.778,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.153,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_080425.4",
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Mitochondrial,Unknown",
"hgvs_c": "c.2610G>C",
"hgvs_p": "p.Gln870His"
}
],
"clinvar_disease": " multiple types,Pituitary adenoma 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pituitary adenoma 3, multiple types",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}