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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: 20-58910757-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58910757&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58910757,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000354359.12",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.3042C>T",
"hgvs_p": "p.Asn1014Asn",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "ENST00000371100.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.3042C>T",
"hgvs_p": "p.Asn1014Asn",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "NM_080425.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.Asn371Asn",
"transcript": "NM_000516.7",
"protein_id": "NP_000507.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 394,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "ENST00000371085.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.Asn371Asn",
"transcript": "ENST00000371085.8",
"protein_id": "ENSP00000360126.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 394,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "NM_000516.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.3045C>T",
"hgvs_p": "p.Asn1015Asn",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3045,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3597,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.3000C>T",
"hgvs_p": "p.Asn1000Asn",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Asn372Asn",
"transcript": "ENST00000354359.12",
"protein_id": "ENSP00000346328.7",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 395,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Asn357Asn",
"transcript": "ENST00000371095.7",
"protein_id": "ENSP00000360136.3",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 380,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.1068C>T",
"hgvs_p": "p.Asn356Asn",
"transcript": "ENST00000265620.11",
"protein_id": "ENSP00000265620.7",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 379,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.939C>T",
"hgvs_p": "p.Asn313Asn",
"transcript": "ENST00000470512.6",
"protein_id": "ENSP00000499552.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 336,
"cds_start": 939,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.939C>T",
"hgvs_p": "p.Asn313Asn",
"transcript": "ENST00000480232.6",
"protein_id": "ENSP00000499545.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 336,
"cds_start": 939,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.939C>T",
"hgvs_p": "p.Asn313Asn",
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 336,
"cds_start": 939,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Asn312Asn",
"transcript": "ENST00000477931.5",
"protein_id": "ENSP00000499660.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 335,
"cds_start": 936,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000478585.6",
"protein_id": "ENSP00000499762.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000481039.6",
"protein_id": "ENSP00000499767.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000485673.6",
"protein_id": "ENSP00000499334.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000488546.6",
"protein_id": "ENSP00000499332.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "ENST00000492907.6",
"protein_id": "ENSP00000499443.2",
"transcript_support_level": 3,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 894,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1499,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.1871C>T",
"hgvs_p": null,
"transcript": "ENST00000475610.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*1019C>T",
"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": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
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"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": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"dbsnp": "rs8386",
"frequency_reference_population": 0.020046894,
"hom_count_reference_population": 1341,
"allele_count_reference_population": 32353,
"gnomad_exomes_af": 0.0162137,
"gnomad_genomes_af": 0.0568413,
"gnomad_exomes_ac": 23698,
"gnomad_genomes_ac": 8655,
"gnomad_exomes_homalt": 708,
"gnomad_genomes_homalt": 633,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"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": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.084,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000354359.12",
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Mitochondrial,Unknown",
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Asn372Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}