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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: 15-34252219-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34252219&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34252219,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000354181.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "NM_001365088.1",
"protein_id": "NP_001352017.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "ENST00000354181.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "ENST00000354181.8",
"protein_id": "ENSP00000346112.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "NM_001365088.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "ENST00000560611.5",
"protein_id": "ENSP00000454168.1",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1257C>G",
"hgvs_p": "p.Asn419Lys",
"transcript": "ENST00000558589.5",
"protein_id": "ENSP00000452776.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1257,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1239C>G",
"hgvs_p": "p.Asn413Lys",
"transcript": "ENST00000397707.6",
"protein_id": "ENSP00000380819.2",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1239,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1131C>G",
"hgvs_p": "p.Asn377Lys",
"transcript": "ENST00000290209.9",
"protein_id": "ENSP00000290209.5",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1131,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1107C>G",
"hgvs_p": "p.Asn369Lys",
"transcript": "ENST00000397702.6",
"protein_id": "ENSP00000380814.2",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1107C>G",
"hgvs_p": "p.Asn369Lys",
"transcript": "ENST00000458406.6",
"protein_id": "ENSP00000387725.2",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.1284C>G",
"hgvs_p": null,
"transcript": "ENST00000559664.5",
"protein_id": "ENSP00000453702.1",
"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": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.1284C>G",
"hgvs_p": null,
"transcript": "ENST00000561080.5",
"protein_id": "ENSP00000454069.1",
"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": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "NM_133647.2",
"protein_id": "NP_598408.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "ENST00000558667.5",
"protein_id": "ENSP00000453473.1",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 1150,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "ENST00000676379.1",
"protein_id": "ENSP00000502539.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1284,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1257C>G",
"hgvs_p": "p.Asn419Lys",
"transcript": "NM_001042496.2",
"protein_id": "NP_001035961.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1257,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1239C>G",
"hgvs_p": "p.Asn413Lys",
"transcript": "NM_001042497.2",
"protein_id": "NP_001035962.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1239,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 7841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1131C>G",
"hgvs_p": "p.Asn377Lys",
"transcript": "NM_005135.2",
"protein_id": "NP_005126.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1131,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1107C>G",
"hgvs_p": "p.Asn369Lys",
"transcript": "NM_001042494.2",
"protein_id": "NP_001035959.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1107C>G",
"hgvs_p": "p.Asn369Lys",
"transcript": "NM_001042495.2",
"protein_id": "NP_001035960.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 7568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Asn240Lys",
"transcript": "ENST00000560164.5",
"protein_id": "ENSP00000452705.1",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 962,
"cds_start": 720,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1137C>G",
"hgvs_p": "p.Asn379Lys",
"transcript": "XM_006720793.5",
"protein_id": "XP_006720856.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 7739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asn328Lys",
"transcript": "XM_047433396.1",
"protein_id": "XP_047289352.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 1050,
"cds_start": 984,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "XM_011522269.4",
"protein_id": "XP_011520571.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 680,
"cds_start": 1284,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
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{
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"protein_coding": false,
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},
{
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"protein_coding": false,
"strand": false,
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}
],
"gene_symbol": "SLC12A6",
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"dbsnp": "rs34098566",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"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": 0.7352453470230103,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.282,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354181.8",
"gene_symbol": "SLC12A6",
"hgnc_id": 10914,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}