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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: 20-9384333-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=9384333&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 9384333,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378473.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001377142.1",
"protein_id": "NP_001364071.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1206,
"cds_start": 986,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "ENST00000378473.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000378473.9",
"protein_id": "ENSP00000367734.5",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 1206,
"cds_start": 986,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "NM_001377142.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Asn311Ser",
"transcript": "ENST00000278655.9",
"protein_id": "ENSP00000278655.5",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 1157,
"cds_start": 932,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5402,
"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": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "n.763A>G",
"hgvs_p": null,
"transcript": "ENST00000464199.5",
"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": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000685298.1",
"protein_id": "ENSP00000509390.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1209,
"cds_start": 986,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001377143.1",
"protein_id": "NP_001364072.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1206,
"cds_start": 986,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000685568.1",
"protein_id": "ENSP00000508726.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1206,
"cds_start": 986,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_000933.4",
"protein_id": "NP_000924.3",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001377134.2",
"protein_id": "NP_001364063.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001377135.1",
"protein_id": "NP_001364064.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000378501.3",
"protein_id": "ENSP00000367762.2",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000686313.1",
"protein_id": "ENSP00000508595.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000686871.1",
"protein_id": "ENSP00000510118.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000686976.1",
"protein_id": "ENSP00000508600.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000693752.1",
"protein_id": "ENSP00000508677.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1194,
"cds_start": 986,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000684997.1",
"protein_id": "ENSP00000509144.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1188,
"cds_start": 986,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000688325.1",
"protein_id": "ENSP00000509615.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1188,
"cds_start": 986,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001172646.2",
"protein_id": "NP_001166117.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1187,
"cds_start": 986,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000685823.1",
"protein_id": "ENSP00000508676.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1187,
"cds_start": 986,
"cds_end": null,
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"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000686893.1",
"protein_id": "ENSP00000508817.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1179,
"cds_start": 986,
"cds_end": null,
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"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "ENST00000690960.1",
"protein_id": "ENSP00000509460.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1176,
"cds_start": 986,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser",
"transcript": "NM_001377136.1",
"protein_id": "NP_001364065.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 1175,
"cds_start": 986,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "n.*937A>G",
"hgvs_p": null,
"transcript": "ENST00000689392.1",
"protein_id": "ENSP00000510662.1",
"transcript_support_level": null,
"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": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"dbsnp": "rs387907179",
"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": 0.9770479202270508,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.718,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.947,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000378473.9",
"gene_symbol": "PLCB4",
"hgnc_id": 9059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Asn329Ser"
}
],
"clinvar_disease": "Auriculocondylar syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Auriculocondylar syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}