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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: 8-38414263-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38414263&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38414263,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001174067.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Glu692Gly",
"transcript": "NM_023110.3",
"protein_id": "NP_075598.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023110.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Glu692Gly",
"transcript": "ENST00000447712.7",
"protein_id": "ENSP00000400162.2",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023110.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447712.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "ENST00000425967.8",
"protein_id": "ENSP00000393312.4",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 828,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425967.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "ENST00000397091.9",
"protein_id": "ENSP00000380280.5",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397091.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "ENST00000397108.8",
"protein_id": "ENSP00000380297.4",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397108.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "ENST00000397113.6",
"protein_id": "ENSP00000380302.2",
"transcript_support_level": 2,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397113.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Glu682Gly",
"transcript": "ENST00000335922.9",
"protein_id": "ENSP00000337247.5",
"transcript_support_level": 1,
"aa_start": 682,
"aa_end": null,
"aa_length": 812,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335922.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Glu603Gly",
"transcript": "ENST00000356207.9",
"protein_id": "ENSP00000348537.5",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 733,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356207.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Glu603Gly",
"transcript": "ENST00000397103.5",
"protein_id": "ENSP00000380292.1",
"transcript_support_level": 5,
"aa_start": 603,
"aa_end": null,
"aa_length": 733,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397103.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Glu601Gly",
"transcript": "ENST00000326324.10",
"protein_id": "ENSP00000327229.6",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 731,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326324.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.4354A>G",
"hgvs_p": null,
"transcript": "ENST00000526570.5",
"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": "retained_intron",
"feature": "ENST00000526570.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2255A>G",
"hgvs_p": "p.Glu752Gly",
"transcript": "ENST00000683765.1",
"protein_id": "ENSP00000507039.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 892,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683765.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Glu723Gly",
"transcript": "NM_001174067.2",
"protein_id": "NP_001167538.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 853,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174067.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "NM_001354367.2",
"protein_id": "NP_001341296.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 830,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354367.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "NM_001354369.2",
"protein_id": "NP_001341298.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 828,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354369.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "ENST00000341462.9",
"protein_id": "ENSP00000340636.7",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 828,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341462.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Glu692Gly",
"transcript": "ENST00000703405.1",
"protein_id": "ENSP00000515291.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703405.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Glu692Gly",
"transcript": "ENST00000857937.1",
"protein_id": "ENSP00000527996.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857937.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "NM_001174063.2",
"protein_id": "NP_001167534.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174063.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "NM_001174065.2",
"protein_id": "NP_001167536.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174065.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "NM_015850.4",
"protein_id": "NP_056934.2",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015850.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Glu690Gly",
"transcript": "ENST00000532791.5",
"protein_id": "ENSP00000432972.1",
"transcript_support_level": 5,
"aa_start": 690,
"aa_end": null,
"aa_length": 820,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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{
"score": 12,
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"pathogenic_score": 12,
"criteria": [
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"PM5",
"PP2",
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"verdict": "Pathogenic",
"transcript": "NM_001174067.2",
"gene_symbol": "FGFR1",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "Hypogonadotropic hypogonadism 2 with anosmia,Hypogonadotropic hypogonadism 2 with or without anosmia,Pfeiffer syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Hypogonadotropic hypogonadism 2 with anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}