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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: 16-16165820-CAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16165820&ref=CAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16165820,
"ref": "CAAA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001171.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del",
"transcript": "NM_001171.6",
"protein_id": "NP_001162.5",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000205557.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del",
"transcript": "ENST00000205557.12",
"protein_id": "ENSP00000205557.7",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001171.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205557.12"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3202_3204delTTT",
"hgvs_p": "p.Phe1068del",
"transcript": "ENST00000909083.1",
"protein_id": "ENSP00000579142.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1535,
"cds_start": 3202,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909083.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3199_3201delTTT",
"hgvs_p": "p.Phe1067del",
"transcript": "ENST00000909090.1",
"protein_id": "ENSP00000579149.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3199,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909090.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3196_3198delTTT",
"hgvs_p": "p.Phe1066del",
"transcript": "ENST00000909087.1",
"protein_id": "ENSP00000579146.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3196,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909087.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3142_3144delTTT",
"hgvs_p": "p.Phe1048del",
"transcript": "ENST00000909096.1",
"protein_id": "ENSP00000579155.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3142,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909096.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del",
"transcript": "ENST00000909085.1",
"protein_id": "ENSP00000579144.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909085.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3199_3201delTTT",
"hgvs_p": "p.Phe1067del",
"transcript": "ENST00000909097.1",
"protein_id": "ENSP00000579156.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1507,
"cds_start": 3199,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909097.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3073_3075delTTT",
"hgvs_p": "p.Phe1025del",
"transcript": "NM_001440309.1",
"protein_id": "NP_001427238.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3073,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440309.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3073_3075delTTT",
"hgvs_p": "p.Phe1025del",
"transcript": "ENST00000909086.1",
"protein_id": "ENSP00000579145.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3073,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909086.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3067_3069delTTT",
"hgvs_p": "p.Phe1023del",
"transcript": "ENST00000909094.1",
"protein_id": "ENSP00000579153.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3067,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909094.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3055_3057delTTT",
"hgvs_p": "p.Phe1019del",
"transcript": "ENST00000909095.1",
"protein_id": "ENSP00000579154.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3055,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909095.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3031_3033delTTT",
"hgvs_p": "p.Phe1011del",
"transcript": "ENST00000909091.1",
"protein_id": "ENSP00000579150.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1478,
"cds_start": 3031,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909091.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del",
"transcript": "ENST00000909089.1",
"protein_id": "ENSP00000579148.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1476,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909089.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3013_3015delTTT",
"hgvs_p": "p.Phe1005del",
"transcript": "ENST00000909092.1",
"protein_id": "ENSP00000579151.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3013,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909092.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del",
"transcript": "ENST00000946282.1",
"protein_id": "ENSP00000616341.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946282.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3013_3015delTTT",
"hgvs_p": "p.Phe1005del",
"transcript": "ENST00000946285.1",
"protein_id": "ENSP00000616344.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3013,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946285.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2980_2982delTTT",
"hgvs_p": "p.Phe994del",
"transcript": "ENST00000909088.1",
"protein_id": "ENSP00000579147.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2980,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909088.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2974_2976delTTT",
"hgvs_p": "p.Phe992del",
"transcript": "ENST00000909093.1",
"protein_id": "ENSP00000579152.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1459,
"cds_start": 2974,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909093.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2962_2964delTTT",
"hgvs_p": "p.Phe988del",
"transcript": "ENST00000946284.1",
"protein_id": "ENSP00000616343.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2962,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946284.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2938_2940delTTT",
"hgvs_p": "p.Phe980del",
"transcript": "NM_001440310.1",
"protein_id": "NP_001427239.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2938,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440310.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
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{
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],
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"dbsnp": "rs72664230",
"frequency_reference_population": 0.0000047904127,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479041,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.866,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001171.6",
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3106_3108delTTT",
"hgvs_p": "p.Phe1036del"
}
],
"clinvar_disease": " 2, forme fruste, generalized, of infancy,Arterial calcification,Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Autosomal recessive inherited pseudoxanthoma elasticum|not provided|Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}