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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: 3-37282133-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37282133&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 37282133,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001429190.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Ser113Asn",
"transcript": "NM_002078.5",
"protein_id": "NP_002069.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 2230,
"cds_start": 338,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002078.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Ser113Asn",
"transcript": "ENST00000361924.7",
"protein_id": "ENSP00000354486.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 2230,
"cds_start": 338,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002078.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361924.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000437131.2",
"protein_id": "ENSP00000405842.2",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 2250,
"cds_start": 404,
"cds_end": null,
"cds_length": 6753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437131.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000356847.8",
"protein_id": "ENSP00000349305.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 2243,
"cds_start": 404,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356847.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Ser113Asn",
"transcript": "ENST00000444882.5",
"protein_id": "ENSP00000406894.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 166,
"cds_start": 338,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444882.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.228+8532G>A",
"hgvs_p": null,
"transcript": "ENST00000429018.5",
"protein_id": "ENSP00000403009.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": null,
"cds_end": null,
"cds_length": 1756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429018.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "n.1573G>A",
"hgvs_p": null,
"transcript": "ENST00000435830.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435830.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"transcript": "ENST00000431105.2",
"protein_id": "ENSP00000392907.2",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 2285,
"cds_start": 503,
"cds_end": null,
"cds_length": 6858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431105.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"transcript": "ENST00000706569.1",
"protein_id": "ENSP00000516454.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 2283,
"cds_start": 503,
"cds_end": null,
"cds_length": 6852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706569.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn",
"transcript": "NM_001429190.1",
"protein_id": "NP_001416119.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 2267,
"cds_start": 503,
"cds_end": null,
"cds_length": 6804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429190.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001429191.1",
"protein_id": "NP_001416120.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2252,
"cds_start": 404,
"cds_end": null,
"cds_length": 6759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429191.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000699995.1",
"protein_id": "ENSP00000514745.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2252,
"cds_start": 404,
"cds_end": null,
"cds_length": 6759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699995.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001410721.2",
"protein_id": "NP_001397650.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2250,
"cds_start": 404,
"cds_end": null,
"cds_length": 6753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410721.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000699994.1",
"protein_id": "ENSP00000514744.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2245,
"cds_start": 404,
"cds_end": null,
"cds_length": 6738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699994.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000699996.1",
"protein_id": "ENSP00000514746.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2245,
"cds_start": 404,
"cds_end": null,
"cds_length": 6738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699996.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001172713.3",
"protein_id": "NP_001166184.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2243,
"cds_start": 404,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172713.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.377G>A",
"hgvs_p": "p.Ser126Asn",
"transcript": "ENST00000918083.1",
"protein_id": "ENSP00000588142.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 2243,
"cds_start": 377,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918083.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Ser125Asn",
"transcript": "ENST00000918084.1",
"protein_id": "ENSP00000588143.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2242,
"cds_start": 374,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918084.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001429196.1",
"protein_id": "NP_001416125.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2236,
"cds_start": 404,
"cds_end": null,
"cds_length": 6711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429196.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000918080.1",
"protein_id": "ENSP00000588139.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2236,
"cds_start": 404,
"cds_end": null,
"cds_length": 6711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918080.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001429198.1",
"protein_id": "NP_001416127.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2234,
"cds_start": 404,
"cds_end": null,
"cds_length": 6705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429198.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000918079.1",
"protein_id": "ENSP00000588138.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 2229,
"cds_start": 404,
"cds_end": null,
"cds_length": 6690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419177.3"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"hgvs_c": "n.503G>A",
"hgvs_p": null,
"transcript": "ENST00000706568.1",
"protein_id": "ENSP00000516453.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706568.1"
}
],
"gene_symbol": "GOLGA4",
"gene_hgnc_id": 4427,
"dbsnp": "rs748127866",
"frequency_reference_population": 0.00002052166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000205217,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0337827205657959,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.1097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.894,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001429190.1",
"gene_symbol": "GOLGA4",
"hgnc_id": 4427,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Ser168Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}