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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: 1-206909735-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206909735&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206909735,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_005449.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.844G>C",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000628511.2",
"protein_id": "ENSP00000485739.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 306,
"cds_start": 844,
"cds_end": null,
"cds_length": 921,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.975G>C",
"hgvs_p": "p.Ala325Ala",
"transcript": "NM_005449.5",
"protein_id": "NP_005440.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 390,
"cds_start": 975,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000367091.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.975G>C",
"hgvs_p": "p.Ala325Ala",
"transcript": "ENST00000367091.8",
"protein_id": "ENSP00000356058.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 390,
"cds_start": 975,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_005449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.844G>C",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_001193338.2",
"protein_id": "NP_001180267.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 306,
"cds_start": 844,
"cds_end": null,
"cds_length": 921,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.*101G>C",
"hgvs_p": null,
"transcript": "XM_047434334.1",
"protein_id": "XP_047290290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1068G>C",
"hgvs_p": "p.Ala356Ala",
"transcript": "NM_001405862.1",
"protein_id": "NP_001392791.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 421,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.1068G>C",
"hgvs_p": "p.Ala356Ala",
"transcript": "NM_001405863.1",
"protein_id": "NP_001392792.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 421,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.975G>C",
"hgvs_p": "p.Ala325Ala",
"transcript": "NM_001405871.1",
"protein_id": "NP_001392800.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 390,
"cds_start": 975,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.834G>C",
"hgvs_p": "p.Ala278Ala",
"transcript": "NM_001405864.1",
"protein_id": "NP_001392793.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 343,
"cds_start": 834,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.834G>C",
"hgvs_p": "p.Ala278Ala",
"transcript": "NM_001405865.1",
"protein_id": "NP_001392794.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 343,
"cds_start": 834,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.975G>C",
"hgvs_p": "p.Ala325Ala",
"transcript": "NM_001405867.1",
"protein_id": "NP_001392796.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 330,
"cds_start": 975,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.975G>C",
"hgvs_p": "p.Ala325Ala",
"transcript": "NM_001405868.1",
"protein_id": "NP_001392797.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 330,
"cds_start": 975,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.732G>C",
"hgvs_p": "p.Ala244Ala",
"transcript": "NM_001405886.1",
"protein_id": "NP_001392815.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 309,
"cds_start": 732,
"cds_end": null,
"cds_length": 930,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Ala213Ala",
"transcript": "NM_001142473.2",
"protein_id": "NP_001135945.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 278,
"cds_start": 639,
"cds_end": null,
"cds_length": 837,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Ala213Ala",
"transcript": "NM_001405887.1",
"protein_id": "NP_001392816.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 278,
"cds_start": 639,
"cds_end": null,
"cds_length": 837,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Ala213Ala",
"transcript": "ENST00000442471.4",
"protein_id": "ENSP00000404136.2",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 278,
"cds_start": 639,
"cds_end": null,
"cds_length": 837,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.525G>C",
"hgvs_p": "p.Ala175Ala",
"transcript": "NM_001405888.1",
"protein_id": "NP_001392817.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 240,
"cds_start": 525,
"cds_end": null,
"cds_length": 723,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Ala169Ala",
"transcript": "NM_001405889.1",
"protein_id": "NP_001392818.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 234,
"cds_start": 507,
"cds_end": null,
"cds_length": 705,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Ala166Ala",
"transcript": "NM_001405890.1",
"protein_id": "NP_001392819.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 498,
"cds_end": null,
"cds_length": 696,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Ala213Ala",
"transcript": "NM_001405891.1",
"protein_id": "NP_001392820.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 218,
"cds_start": 639,
"cds_end": null,
"cds_length": 657,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.621G>C",
"hgvs_p": "p.Ala207Ala",
"transcript": "NM_001405892.1",
"protein_id": "NP_001392821.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 212,
"cds_start": 621,
"cds_end": null,
"cds_length": 639,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "c.702G>C",
"hgvs_p": "p.Ala234Ala",
"transcript": "XM_047434331.1",
"protein_id": "XP_047290287.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 299,
"cds_start": 702,
"cds_end": null,
"cds_length": 900,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCMR",
"gene_hgnc_id": 14315,
"hgvs_c": "n.*494G>C",
"hgvs_p": null,
"transcript": "ENST00000463473.2",
"protein_id": "ENSP00000436799.1",
"transcript_support_level": 2,
"aa_start": null,
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],
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{
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"BP7"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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}
],
"message": null
}