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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: 10-121498556-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=121498556&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 121498556,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000457416.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Met537Ile",
"transcript": "NM_000141.5",
"protein_id": "NP_000132.3",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 821,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "ENST00000358487.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Met537Ile",
"transcript": "ENST00000358487.10",
"protein_id": "ENSP00000351276.6",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 821,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "NM_000141.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Met538Ile",
"transcript": "ENST00000457416.7",
"protein_id": "ENSP00000410294.2",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 822,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Met538Ile",
"transcript": "ENST00000369056.5",
"protein_id": "ENSP00000358052.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 769,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Met538Ile",
"transcript": "ENST00000369058.7",
"protein_id": "ENSP00000358054.3",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 767,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Met448Ile",
"transcript": "ENST00000613048.4",
"protein_id": "ENSP00000484154.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 732,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Met425Ile",
"transcript": "ENST00000369061.8",
"protein_id": "ENSP00000358057.4",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 709,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1269G>A",
"hgvs_p": "p.Met423Ile",
"transcript": "ENST00000369059.5",
"protein_id": "ENSP00000358055.1",
"transcript_support_level": 5,
"aa_start": 423,
"aa_end": null,
"aa_length": 707,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Met421Ile",
"transcript": "ENST00000369060.8",
"protein_id": "ENSP00000358056.4",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 705,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Met420Ile",
"transcript": "ENST00000356226.8",
"protein_id": "ENSP00000348559.4",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 704,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Met449Ile",
"transcript": "ENST00000360144.7",
"protein_id": "ENSP00000353262.3",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 680,
"cds_start": 1347,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Met309Ile",
"transcript": "ENST00000478859.5",
"protein_id": "ENSP00000474011.1",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 593,
"cds_start": 927,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"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": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.387G>A",
"hgvs_p": "p.Met129Ile",
"transcript": "ENST00000429361.5",
"protein_id": "ENSP00000404219.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 371,
"cds_start": 387,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.*658G>A",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.*658G>A",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Met538Ile",
"transcript": "NM_022970.4",
"protein_id": "NP_075259.4",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 822,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1608G>A",
"hgvs_p": "p.Met536Ile",
"transcript": "NM_001441087.1",
"protein_id": "NP_001428016.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 820,
"cds_start": 1608,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Met535Ile",
"transcript": "NM_001320658.2",
"protein_id": "NP_001307587.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 819,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Met535Ile",
"transcript": "ENST00000346997.6",
"protein_id": "ENSP00000263451.5",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 819,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Met535Ile",
"transcript": "ENST00000351936.11",
"protein_id": "ENSP00000309878.10",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 819,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Met535Ile",
"transcript": "ENST00000683211.1",
"protein_id": "ENSP00000508257.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 819,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Met538Ile",
"transcript": "NM_001144913.1",
"protein_id": "NP_001138385.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 769,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1344G>A",
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],
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PP2"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AD",
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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
}