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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: 7-94656022-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=94656022&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 94656022,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346713.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "NM_003919.3",
"protein_id": "NP_003910.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 437,
"cds_start": 77,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648936.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003919.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000648936.2",
"protein_id": "ENSP00000497130.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 437,
"cds_start": 77,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003919.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648936.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000428696.7",
"protein_id": "ENSP00000397536.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 444,
"cds_start": 77,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428696.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000447873.6",
"protein_id": "ENSP00000388734.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 428,
"cds_start": 77,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447873.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000898607.1",
"protein_id": "ENSP00000568666.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 510,
"cds_start": 77,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898607.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000647096.1",
"protein_id": "ENSP00000494192.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 500,
"cds_start": 77,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647096.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000898602.1",
"protein_id": "ENSP00000568661.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 498,
"cds_start": 77,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898602.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000645101.1",
"protein_id": "ENSP00000494975.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 491,
"cds_start": 77,
"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": "ENST00000645101.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000642707.1",
"protein_id": "ENSP00000495270.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 489,
"cds_start": 77,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642707.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000898606.1",
"protein_id": "ENSP00000568665.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 489,
"cds_start": 77,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898606.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000647351.1",
"protein_id": "ENSP00000494556.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 487,
"cds_start": 77,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647351.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000646943.1",
"protein_id": "ENSP00000494666.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 485,
"cds_start": 77,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646943.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000644122.1",
"protein_id": "ENSP00000495236.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 482,
"cds_start": 77,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644122.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Ser25Asn",
"transcript": "ENST00000647334.1",
"protein_id": "ENSP00000495114.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 481,
"cds_start": 74,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647334.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Ser19Asn",
"transcript": "ENST00000646265.1",
"protein_id": "ENSP00000494587.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 480,
"cds_start": 56,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646265.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000642441.1",
"protein_id": "ENSP00000495994.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 478,
"cds_start": 77,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642441.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000644116.1",
"protein_id": "ENSP00000495276.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 476,
"cds_start": 77,
"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": "ENST00000644116.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000898603.1",
"protein_id": "ENSP00000568662.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 474,
"cds_start": 77,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898603.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "NM_001346713.2",
"protein_id": "NP_001333642.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 473,
"cds_start": 77,
"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": "NM_001346713.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000644375.1",
"protein_id": "ENSP00000494315.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 473,
"cds_start": 77,
"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": "ENST00000644375.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000646489.1",
"protein_id": "ENSP00000496268.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 473,
"cds_start": 77,
"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": "ENST00000646489.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCE",
"gene_hgnc_id": 10808,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn",
"transcript": "ENST00000415788.3",
"protein_id": "ENSP00000405313.2",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 471,
"cds_start": 77,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415788.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
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{
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{
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{
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],
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"biotype": "retained_intron",
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{
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],
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{
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],
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"biotype": "protein_coding",
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{
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],
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"gene_symbol": "SGCE",
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"hgvs_c": "n.-14G>A",
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"transcript": "ENST00000646301.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646301.1"
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],
"gene_symbol": "SGCE",
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"dbsnp": "rs773531358",
"frequency_reference_population": 0.0000020543864,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205439,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23846492171287537,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.169,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001346713.2",
"gene_symbol": "SGCE",
"hgnc_id": 10808,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Ser26Asn"
}
],
"clinvar_disease": "Myoclonic dystonia 11",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Myoclonic dystonia 11",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}