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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: 10-28619543-ATT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28619543&ref=ATT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28619543,
"ref": "ATT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_016628.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1885_1886delTT",
"hgvs_p": "p.Leu629fs",
"transcript": "NM_016628.5",
"protein_id": "NP_057712.2",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 647,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "ENST00000354911.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016628.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1885_1886delTT",
"hgvs_p": "p.Leu629fs",
"transcript": "ENST00000354911.9",
"protein_id": "ENSP00000346986.4",
"transcript_support_level": 1,
"aa_start": 629,
"aa_end": null,
"aa_length": 647,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "NM_016628.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354911.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Leu584fs",
"transcript": "ENST00000375664.8",
"protein_id": "ENSP00000364816.3",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 602,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375664.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.4113_4114delTT",
"hgvs_p": null,
"transcript": "ENST00000345541.6",
"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": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000345541.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.*1311_*1312delTT",
"hgvs_p": null,
"transcript": "ENST00000628285.3",
"protein_id": "ENSP00000486994.2",
"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": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000628285.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.*1311_*1312delTT",
"hgvs_p": null,
"transcript": "ENST00000628285.3",
"protein_id": "ENSP00000486994.2",
"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": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000628285.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1882_1883delTT",
"hgvs_p": "p.Leu628fs",
"transcript": "ENST00000910892.1",
"protein_id": "ENSP00000580952.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 646,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910892.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1882_1883delTT",
"hgvs_p": "p.Leu628fs",
"transcript": "ENST00000923556.1",
"protein_id": "ENSP00000593615.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 646,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923556.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1876_1877delTT",
"hgvs_p": "p.Leu626fs",
"transcript": "ENST00000910897.1",
"protein_id": "ENSP00000580956.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 644,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910897.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1873_1874delTT",
"hgvs_p": "p.Leu625fs",
"transcript": "ENST00000700325.1",
"protein_id": "ENSP00000514952.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 643,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700325.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1873_1874delTT",
"hgvs_p": "p.Leu625fs",
"transcript": "ENST00000706612.1",
"protein_id": "ENSP00000516469.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 643,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706612.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1873_1874delTT",
"hgvs_p": "p.Leu625fs",
"transcript": "ENST00000910899.1",
"protein_id": "ENSP00000580959.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 643,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910899.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1873_1874delTT",
"hgvs_p": "p.Leu625fs",
"transcript": "ENST00000910902.1",
"protein_id": "ENSP00000580960.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 643,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910902.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1870_1871delTT",
"hgvs_p": "p.Leu624fs",
"transcript": "ENST00000923555.1",
"protein_id": "ENSP00000593614.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 642,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923555.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1756_1757delTT",
"hgvs_p": "p.Leu586fs",
"transcript": "ENST00000680735.1",
"protein_id": "ENSP00000505513.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 604,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680735.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Leu584fs",
"transcript": "NM_100264.3",
"protein_id": "NP_567822.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 602,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_100264.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Leu584fs",
"transcript": "ENST00000442148.6",
"protein_id": "ENSP00000400848.2",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 602,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442148.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Leu584fs",
"transcript": "ENST00000679398.1",
"protein_id": "ENSP00000506624.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 602,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679398.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Leu584fs",
"transcript": "ENST00000679428.1",
"protein_id": "ENSP00000506445.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 602,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679428.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1576_1577delTT",
"hgvs_p": "p.Leu526fs",
"transcript": "NM_100486.4",
"protein_id": "NP_567823.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 544,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_100486.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1576_1577delTT",
"hgvs_p": "p.Leu526fs",
"transcript": "ENST00000347934.8",
"protein_id": "ENSP00000311106.4",
"transcript_support_level": 5,
"aa_start": 526,
"aa_end": null,
"aa_length": 544,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347934.8"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1573_1574delTT",
"hgvs_p": "p.Leu525fs",
"transcript": "ENST00000910895.1",
"protein_id": "ENSP00000580953.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 543,
"cds_start": 1573,
"cds_end": 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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],
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681112.1"
}
],
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"dbsnp": "rs1554792658",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.903,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016628.5",
"gene_symbol": "WAC",
"hgnc_id": 17327,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1885_1886delTT",
"hgvs_p": "p.Leu629fs"
}
],
"clinvar_disease": "DeSanto-Shinawi syndrome due to WAC point mutation",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "DeSanto-Shinawi syndrome due to WAC point mutation",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}