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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: X-14009019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14009019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14009019,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017856.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "NM_001042479.2",
"protein_id": "NP_001035944.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680255.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042479.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000680255.1",
"protein_id": "ENSP00000505429.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680255.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000398355.7",
"protein_id": "ENSP00000381398.3",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398355.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "NM_001042480.2",
"protein_id": "NP_001035945.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042480.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "NM_017856.3",
"protein_id": "NP_060326.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017856.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000380523.8",
"protein_id": "ENSP00000369895.4",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380523.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000477386.2",
"protein_id": "ENSP00000505279.1",
"transcript_support_level": 3,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477386.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000889493.1",
"protein_id": "ENSP00000559553.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889493.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000889496.1",
"protein_id": "ENSP00000559555.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889496.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000889498.1",
"protein_id": "ENSP00000559557.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889498.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000889501.1",
"protein_id": "ENSP00000559560.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889501.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000889503.1",
"protein_id": "ENSP00000559562.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889503.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000915202.1",
"protein_id": "ENSP00000585261.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915202.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000915203.1",
"protein_id": "ENSP00000585262.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915203.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000915204.1",
"protein_id": "ENSP00000585263.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915204.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000915205.1",
"protein_id": "ENSP00000585264.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915205.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000915206.1",
"protein_id": "ENSP00000585265.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915206.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000965135.1",
"protein_id": "ENSP00000635194.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965135.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000965136.1",
"protein_id": "ENSP00000635195.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965136.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000965137.1",
"protein_id": "ENSP00000635196.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965137.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn",
"transcript": "ENST00000965138.1",
"protein_id": "ENSP00000635197.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 242,
"cds_start": 623,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965138.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Ser309Asn",
"transcript": "XM_005274555.4",
"protein_id": "XP_005274612.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 343,
"cds_start": 926,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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],
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],
"gene_symbol": "GEMIN8",
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"dbsnp": "rs755568932",
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19371309876441956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.2071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.812,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017856.3",
"gene_symbol": "GEMIN8",
"hgnc_id": 26044,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Ser208Asn"
}
],
"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
}