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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: 10-116125439-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116125439&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 116125439,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005264.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "NM_005264.8",
"protein_id": "NP_005255.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355422.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005264.8"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "ENST00000355422.11",
"protein_id": "ENSP00000347591.6",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005264.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355422.11"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000369236.5",
"protein_id": "ENSP00000358239.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369236.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "NM_001348098.4",
"protein_id": "NP_001335027.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348098.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "ENST00000369234.5",
"protein_id": "ENSP00000358237.4",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369234.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "ENST00000952622.1",
"protein_id": "ENSP00000622681.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952622.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.552C>G",
"hgvs_p": "p.Asn184Lys",
"transcript": "ENST00000952623.1",
"protein_id": "ENSP00000622682.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 465,
"cds_start": 552,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952623.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001145453.4",
"protein_id": "NP_001138925.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145453.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001348096.3",
"protein_id": "NP_001335025.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348096.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001382556.2",
"protein_id": "NP_001369485.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382556.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001382557.2",
"protein_id": "NP_001369486.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382557.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001382558.2",
"protein_id": "NP_001369487.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382558.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_001382559.2",
"protein_id": "NP_001369488.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382559.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "NM_145793.7",
"protein_id": "NP_665736.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145793.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000439649.8",
"protein_id": "ENSP00000393725.3",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439649.8"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000682743.1",
"protein_id": "ENSP00000507970.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682743.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000684105.1",
"protein_id": "ENSP00000506818.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684105.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000861432.1",
"protein_id": "ENSP00000531491.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861432.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000861433.1",
"protein_id": "ENSP00000531492.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861433.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000861434.1",
"protein_id": "ENSP00000531493.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861434.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000861435.1",
"protein_id": "ENSP00000531494.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861435.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFRA1",
"gene_hgnc_id": 4243,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.Asn179Lys",
"transcript": "ENST00000861437.1",
"protein_id": "ENSP00000531496.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 460,
"cds_start": 537,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}