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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: 6-30730921-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30730921&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30730921,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005803.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "NM_005803.4",
"protein_id": "NP_005794.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376389.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005803.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000376389.8",
"protein_id": "ENSP00000365569.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005803.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376389.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.1008G>C",
"hgvs_p": "p.Glu336Asp",
"transcript": "ENST00000903950.1",
"protein_id": "ENSP00000574009.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903950.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.942G>C",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000914089.1",
"protein_id": "ENSP00000584148.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 440,
"cds_start": 942,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914089.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.942G>C",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000946582.1",
"protein_id": "ENSP00000616641.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 440,
"cds_start": 942,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946582.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000903944.1",
"protein_id": "ENSP00000574003.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903944.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000903945.1",
"protein_id": "ENSP00000574004.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903945.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000903948.1",
"protein_id": "ENSP00000574007.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903948.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000903949.1",
"protein_id": "ENSP00000574008.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 903,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903949.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.900G>C",
"hgvs_p": "p.Glu300Asp",
"transcript": "ENST00000903959.1",
"protein_id": "ENSP00000574018.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 426,
"cds_start": 900,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903959.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.900G>C",
"hgvs_p": "p.Glu300Asp",
"transcript": "ENST00000914092.1",
"protein_id": "ENSP00000584151.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 426,
"cds_start": 900,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914092.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.897G>C",
"hgvs_p": "p.Glu299Asp",
"transcript": "ENST00000903953.1",
"protein_id": "ENSP00000574012.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 425,
"cds_start": 897,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903953.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.897G>C",
"hgvs_p": "p.Glu299Asp",
"transcript": "ENST00000946577.1",
"protein_id": "ENSP00000616636.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 425,
"cds_start": 897,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946577.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.894G>C",
"hgvs_p": "p.Glu298Asp",
"transcript": "ENST00000914090.1",
"protein_id": "ENSP00000584149.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 424,
"cds_start": 894,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914090.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.891G>C",
"hgvs_p": "p.Glu297Asp",
"transcript": "ENST00000946579.1",
"protein_id": "ENSP00000616638.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946579.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp",
"transcript": "ENST00000903951.1",
"protein_id": "ENSP00000574010.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 422,
"cds_start": 903,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903951.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.879G>C",
"hgvs_p": "p.Glu293Asp",
"transcript": "ENST00000903956.1",
"protein_id": "ENSP00000574015.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 419,
"cds_start": 879,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903956.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.867G>C",
"hgvs_p": "p.Glu289Asp",
"transcript": "ENST00000903952.1",
"protein_id": "ENSP00000574011.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 415,
"cds_start": 867,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903952.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Glu286Asp",
"transcript": "ENST00000903954.1",
"protein_id": "ENSP00000574013.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 412,
"cds_start": 858,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903954.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.855G>C",
"hgvs_p": "p.Glu285Asp",
"transcript": "ENST00000946581.1",
"protein_id": "ENSP00000616640.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 411,
"cds_start": 855,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946581.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.804G>C",
"hgvs_p": "p.Glu268Asp",
"transcript": "ENST00000903957.1",
"protein_id": "ENSP00000574016.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 394,
"cds_start": 804,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903957.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.984,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.112044952831691,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005803.4",
"gene_symbol": "FLOT1",
"hgnc_id": 3757,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Glu301Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}