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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: 2-159236061-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159236061&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159236061,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152528.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "NM_001128212.3",
"protein_id": "NP_001121684.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359774.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128212.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "ENST00000359774.9",
"protein_id": "ENSP00000352820.4",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128212.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359774.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Asn376Ser",
"transcript": "ENST00000358147.8",
"protein_id": "ENSP00000350866.4",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 384,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358147.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000851154.1",
"protein_id": "ENSP00000521213.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 491,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851154.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000851158.1",
"protein_id": "ENSP00000521217.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 491,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851158.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000969547.1",
"protein_id": "ENSP00000639606.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 491,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969547.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "NM_001128213.2",
"protein_id": "NP_001121685.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128213.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "NM_001330278.2",
"protein_id": "NP_001317207.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330278.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "NM_152528.3",
"protein_id": "NP_689741.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152528.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "ENST00000392796.7",
"protein_id": "ENSP00000376545.3",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392796.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "ENST00000409990.7",
"protein_id": "ENSP00000387078.3",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409990.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "ENST00000851151.1",
"protein_id": "ENSP00000521210.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851151.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Asn468Ser",
"transcript": "ENST00000851156.1",
"protein_id": "ENSP00000521215.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851156.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asn465Ser",
"transcript": "ENST00000969541.1",
"protein_id": "ENSP00000639600.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 473,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969541.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Asn443Ser",
"transcript": "ENST00000851153.1",
"protein_id": "ENSP00000521212.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 451,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851153.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Asn443Ser",
"transcript": "ENST00000969543.1",
"protein_id": "ENSP00000639602.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 451,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969543.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"transcript": "ENST00000969542.1",
"protein_id": "ENSP00000639601.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 445,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969542.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Asn435Ser",
"transcript": "ENST00000851157.1",
"protein_id": "ENSP00000521216.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 443,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851157.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"transcript": "NM_001330274.2",
"protein_id": "NP_001317203.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330274.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"transcript": "ENST00000409124.1",
"protein_id": "ENSP00000386891.1",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409124.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"transcript": "ENST00000969546.1",
"protein_id": "ENSP00000639605.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969546.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDSUB1",
"gene_hgnc_id": 26697,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asn406Ser",
"transcript": "ENST00000936441.1",
"protein_id": "ENSP00000606500.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 414,
"cds_start": 1217,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
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{
"score": -4,
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],
"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": -4,
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],
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],
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}
],
"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
}