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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: 8-38413783-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38413783&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38413783,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001174067.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Pro772Ser",
"transcript": "NM_023110.3",
"protein_id": "NP_075598.2",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 822,
"cds_start": 2314,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Pro772Ser",
"transcript": "ENST00000447712.7",
"protein_id": "ENSP00000400162.2",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 822,
"cds_start": 2314,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000397091.9",
"protein_id": "ENSP00000380280.5",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000397108.8",
"protein_id": "ENSP00000380297.4",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000397113.6",
"protein_id": "ENSP00000380302.2",
"transcript_support_level": 2,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Pro762Ser",
"transcript": "ENST00000335922.9",
"protein_id": "ENSP00000337247.5",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 812,
"cds_start": 2284,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Pro683Ser",
"transcript": "ENST00000356207.9",
"protein_id": "ENSP00000348537.5",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Pro683Ser",
"transcript": "ENST00000397103.5",
"protein_id": "ENSP00000380292.1",
"transcript_support_level": 5,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"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": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.Pro681Ser",
"transcript": "ENST00000326324.10",
"protein_id": "ENSP00000327229.6",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 731,
"cds_start": 2041,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2280+135C>T",
"hgvs_p": null,
"transcript": "ENST00000425967.8",
"protein_id": "ENSP00000393312.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "n.4593C>T",
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Pro803Ser",
"transcript": "NM_001174067.2",
"protein_id": "NP_001167538.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 853,
"cds_start": 2407,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Pro772Ser",
"transcript": "ENST00000703405.1",
"protein_id": "ENSP00000515291.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 822,
"cds_start": 2314,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Pro772Ser",
"transcript": "ENST00000857937.1",
"protein_id": "ENSP00000527996.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 822,
"cds_start": 2314,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "NM_001174063.2",
"protein_id": "NP_001167534.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "NM_001174065.2",
"protein_id": "NP_001167536.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "NM_015850.4",
"protein_id": "NP_056934.2",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000532791.5",
"protein_id": "ENSP00000432972.1",
"transcript_support_level": 5,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "ENST00000532791.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000934571.1",
"protein_id": "ENSP00000604630.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "ENST00000934571.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000934573.1",
"protein_id": "ENSP00000604632.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 820,
"cds_start": 2308,
"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": "ENST00000934573.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Pro768Ser",
"transcript": "NM_001410922.1",
"protein_id": "NP_001397851.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 818,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410922.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Pro768Ser",
"transcript": "ENST00000683815.1",
"protein_id": "ENSP00000507997.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 818,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "FGFR1",
"gene_hgnc_id": 3688,
"dbsnp": "rs56234888",
"frequency_reference_population": 0.002240905,
"hom_count_reference_population": 83,
"allele_count_reference_population": 3617,
"gnomad_exomes_af": 0.00121764,
"gnomad_genomes_af": 0.0120671,
"gnomad_exomes_ac": 1780,
"gnomad_genomes_ac": 1837,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 45,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0059129297733306885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1137,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.901,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001174067.2",
"gene_symbol": "FGFR1",
"hgnc_id": 3688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Pro803Ser"
}
],
"clinvar_disease": "Craniosynostosis syndrome,Hypogonadotropic hypogonadism 2 with or without anosmia,Osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:6",
"phenotype_combined": "not specified|Trigonocephaly 1|Osteoglophonic dysplasia|Craniosynostosis syndrome|Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia;Pfeiffer syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}