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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: 17-37520637-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37520637&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37520637,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001405103.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3678C>G",
"hgvs_p": "p.Asn1226Lys",
"transcript": "NM_007247.6",
"protein_id": "NP_009178.3",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3678,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612223.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007247.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3678C>G",
"hgvs_p": "p.Asn1226Lys",
"transcript": "ENST00000612223.5",
"protein_id": "ENSP00000483453.1",
"transcript_support_level": 1,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3678,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007247.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612223.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3513C>G",
"hgvs_p": "p.Asn1171Lys",
"transcript": "ENST00000622045.4",
"protein_id": "ENSP00000483063.1",
"transcript_support_level": 1,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3513,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622045.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3441C>G",
"hgvs_p": "p.Asn1147Lys",
"transcript": "ENST00000619541.4",
"protein_id": "ENSP00000477885.1",
"transcript_support_level": 1,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619541.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3444C>G",
"hgvs_p": "p.Asn1148Lys",
"transcript": "ENST00000621136.4",
"protein_id": "ENSP00000484529.1",
"transcript_support_level": 1,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621136.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3060C>G",
"hgvs_p": "p.Asn1020Lys",
"transcript": "ENST00000614941.4",
"protein_id": "ENSP00000481151.1",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614941.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.4050C>G",
"hgvs_p": "p.Asn1350Lys",
"transcript": "NM_001405103.1",
"protein_id": "NP_001392032.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4050,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405103.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3981C>G",
"hgvs_p": "p.Asn1327Lys",
"transcript": "ENST00000864300.1",
"protein_id": "ENSP00000534359.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3981,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864300.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3978C>G",
"hgvs_p": "p.Asn1326Lys",
"transcript": "ENST00000864302.1",
"protein_id": "ENSP00000534361.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3978,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864302.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3981C>G",
"hgvs_p": "p.Asn1327Lys",
"transcript": "ENST00000936287.1",
"protein_id": "ENSP00000606346.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3981,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936287.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3978C>G",
"hgvs_p": "p.Asn1326Lys",
"transcript": "ENST00000936288.1",
"protein_id": "ENSP00000606347.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3978,
"cds_end": null,
"cds_length": 4209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936288.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3936C>G",
"hgvs_p": "p.Asn1312Lys",
"transcript": "ENST00000864297.1",
"protein_id": "ENSP00000534356.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3936,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864297.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3846C>G",
"hgvs_p": "p.Asn1282Lys",
"transcript": "ENST00000864291.1",
"protein_id": "ENSP00000534350.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3846,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864291.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3843C>G",
"hgvs_p": "p.Asn1281Lys",
"transcript": "ENST00000864304.1",
"protein_id": "ENSP00000534363.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3843,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864304.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3843C>G",
"hgvs_p": "p.Asn1281Lys",
"transcript": "ENST00000972435.1",
"protein_id": "ENSP00000642494.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3843,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972435.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3840C>G",
"hgvs_p": "p.Asn1280Lys",
"transcript": "ENST00000936284.1",
"protein_id": "ENSP00000606343.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936284.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3846C>G",
"hgvs_p": "p.Asn1282Lys",
"transcript": "ENST00000864303.1",
"protein_id": "ENSP00000534362.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3846,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864303.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3843C>G",
"hgvs_p": "p.Asn1281Lys",
"transcript": "ENST00000936286.1",
"protein_id": "ENSP00000606345.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3843,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936286.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3840C>G",
"hgvs_p": "p.Asn1280Lys",
"transcript": "ENST00000864296.1",
"protein_id": "ENSP00000534355.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864296.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3732C>G",
"hgvs_p": "p.Asn1244Lys",
"transcript": "ENST00000936290.1",
"protein_id": "ENSP00000606349.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3732,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936290.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3726C>G",
"hgvs_p": "p.Asn1242Lys",
"transcript": "ENST00000972438.1",
"protein_id": "ENSP00000642497.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3726,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972438.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNRG",
"gene_hgnc_id": 557,
"hgvs_c": "c.3747C>G",
"hgvs_p": "p.Asn1249Lys",
"transcript": "ENST00000864308.1",
"protein_id": "ENSP00000534367.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1325,
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{
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"frequency_reference_population": null,
"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,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "AR",
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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
}