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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: 7-23700830-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23700830&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23700830,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_199136.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_199136.5",
"protein_id": "NP_954587.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 298,
"cds_start": 790,
"cds_end": null,
"cds_length": 897,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": "ENST00000344962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199136.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000344962.9",
"protein_id": "ENSP00000342576.4",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 298,
"cds_start": 790,
"cds_end": null,
"cds_length": 897,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": "NM_199136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344962.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Asp228Asn",
"transcript": "ENST00000409192.7",
"protein_id": "ENSP00000386927.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 262,
"cds_start": 682,
"cds_end": null,
"cds_length": 789,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409192.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"transcript": "ENST00000409994.3",
"protein_id": "ENSP00000386631.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 204,
"cds_start": 508,
"cds_end": null,
"cds_length": 615,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409994.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "n.3561G>A",
"hgvs_p": null,
"transcript": "ENST00000462546.5",
"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": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462546.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000871254.1",
"protein_id": "ENSP00000541313.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 334,
"cds_start": 790,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871254.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "ENST00000929837.1",
"protein_id": "ENSP00000599896.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 333,
"cds_start": 787,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929837.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Asp290Asn",
"transcript": "ENST00000929841.1",
"protein_id": "ENSP00000599900.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 324,
"cds_start": 868,
"cds_end": null,
"cds_length": 975,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929841.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Asp231Asn",
"transcript": "ENST00000929843.1",
"protein_id": "ENSP00000599902.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 301,
"cds_start": 691,
"cds_end": null,
"cds_length": 906,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929843.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000871250.1",
"protein_id": "ENSP00000541309.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 298,
"cds_start": 790,
"cds_end": null,
"cds_length": 897,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871250.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Asp228Asn",
"transcript": "ENST00000929835.1",
"protein_id": "ENSP00000599894.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 298,
"cds_start": 682,
"cds_end": null,
"cds_length": 897,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929835.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "ENST00000871253.1",
"protein_id": "ENSP00000541312.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 297,
"cds_start": 787,
"cds_end": null,
"cds_length": 894,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871253.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Asp206Asn",
"transcript": "ENST00000871255.1",
"protein_id": "ENSP00000541314.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 276,
"cds_start": 616,
"cds_end": null,
"cds_length": 831,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871255.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"transcript": "ENST00000929838.1",
"protein_id": "ENSP00000599897.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 268,
"cds_start": 700,
"cds_end": null,
"cds_length": 807,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929838.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Asp231Asn",
"transcript": "ENST00000929834.1",
"protein_id": "ENSP00000599893.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 265,
"cds_start": 691,
"cds_end": null,
"cds_length": 798,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929834.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Asp228Asn",
"transcript": "NM_001127364.3",
"protein_id": "NP_001120836.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 262,
"cds_start": 682,
"cds_end": null,
"cds_length": 789,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127364.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Asp227Asn",
"transcript": "ENST00000871256.1",
"protein_id": "ENSP00000541315.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 261,
"cds_start": 679,
"cds_end": null,
"cds_length": 786,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871256.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Asp206Asn",
"transcript": "NM_001300932.2",
"protein_id": "NP_001287861.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
"cds_length": 723,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300932.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Asp206Asn",
"transcript": "ENST00000409653.5",
"protein_id": "ENSP00000386900.1",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 240,
"cds_start": 616,
"cds_end": null,
"cds_length": 723,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409653.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Asp170Asn",
"transcript": "ENST00000929839.1",
"protein_id": "ENSP00000599898.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 240,
"cds_start": 508,
"cds_end": null,
"cds_length": 723,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929839.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Asp205Asn",
"transcript": "ENST00000871252.1",
"protein_id": "ENSP00000541311.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 239,
"cds_start": 613,
"cds_end": null,
"cds_length": 720,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871252.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Asp195Asn",
"transcript": "ENST00000929842.1",
"protein_id": "ENSP00000599901.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 229,
"cds_start": 583,
"cds_end": null,
"cds_length": 690,
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"alphamissense_score": 0.1202,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.672,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199136.5",
"gene_symbol": "FAM221A",
"hgnc_id": 27977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}