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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: 16-16150127-CCTGGCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16150127&ref=CCTGGCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16150127,
"ref": "CCTGGCT",
"alt": "C",
"effect": "stop_lost,conservative_inframe_deletion",
"transcript": "NM_001171.6",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4512_*5delAGCCAG",
"hgvs_p": "p.Ter1504delins???",
"transcript": "NM_001171.6",
"protein_id": "NP_001162.5",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4512,
"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": "*",
"aa_alt": "?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4512_*5delAGCCAG",
"hgvs_p": "p.Ter1504delins???",
"transcript": "ENST00000205557.12",
"protein_id": "ENSP00000205557.7",
"transcript_support_level": 1,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4512,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4512_*5delAGCCAG",
"hgvs_p": null,
"transcript": "NM_001171.6",
"protein_id": "NP_001162.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4512_*5delAGCCAG",
"hgvs_p": null,
"transcript": "ENST00000205557.12",
"protein_id": "ENSP00000205557.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4608_*5delAGCCAG",
"hgvs_p": "p.Ter1536delins???",
"transcript": "ENST00000909083.1",
"protein_id": "ENSP00000579142.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4608,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4605_*5delAGCCAG",
"hgvs_p": "p.Ter1535delins???",
"transcript": "ENST00000909090.1",
"protein_id": "ENSP00000579149.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4605,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4602_*5delAGCCAG",
"hgvs_p": "p.Ter1534delins???",
"transcript": "ENST00000909087.1",
"protein_id": "ENSP00000579146.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1533,
"cds_start": 4602,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4548_*5delAGCCAG",
"hgvs_p": "p.Ter1516delins???",
"transcript": "ENST00000909096.1",
"protein_id": "ENSP00000579155.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4548,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4536_*5delAGCCAG",
"hgvs_p": "p.Ter1512delins???",
"transcript": "ENST00000909085.1",
"protein_id": "ENSP00000579144.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4536,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4524_*5delAGCCAG",
"hgvs_p": "p.Ter1508delins???",
"transcript": "ENST00000909097.1",
"protein_id": "ENSP00000579156.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4524,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4479_*5delAGCCAG",
"hgvs_p": "p.Ter1493delins???",
"transcript": "NM_001440309.1",
"protein_id": "NP_001427238.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1492,
"cds_start": 4479,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4479_*5delAGCCAG",
"hgvs_p": "p.Ter1493delins???",
"transcript": "ENST00000909086.1",
"protein_id": "ENSP00000579145.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1492,
"cds_start": 4479,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4473_*5delAGCCAG",
"hgvs_p": "p.Ter1491delins???",
"transcript": "ENST00000909094.1",
"protein_id": "ENSP00000579153.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1490,
"cds_start": 4473,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4461_*5delAGCCAG",
"hgvs_p": "p.Ter1487delins???",
"transcript": "ENST00000909095.1",
"protein_id": "ENSP00000579154.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4461,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4437_*5delAGCCAG",
"hgvs_p": "p.Ter1479delins???",
"transcript": "ENST00000909091.1",
"protein_id": "ENSP00000579150.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4437,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4431_*5delAGCCAG",
"hgvs_p": "p.Ter1477delins???",
"transcript": "ENST00000909089.1",
"protein_id": "ENSP00000579148.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1476,
"cds_start": 4431,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4419_*5delAGCCAG",
"hgvs_p": "p.Ter1473delins???",
"transcript": "ENST00000909092.1",
"protein_id": "ENSP00000579151.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4419,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4410_*5delAGCCAG",
"hgvs_p": "p.Ter1470delins???",
"transcript": "ENST00000946282.1",
"protein_id": "ENSP00000616341.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4410,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4410_*5delAGCCAG",
"hgvs_p": "p.Ter1470delins???",
"transcript": "ENST00000946285.1",
"protein_id": "ENSP00000616344.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4410,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4386_*5delAGCCAG",
"hgvs_p": "p.Ter1462delins???",
"transcript": "ENST00000909088.1",
"protein_id": "ENSP00000579147.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1461,
"cds_start": 4386,
"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": "*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.4380_*5delAGCCAG",
"hgvs_p": "p.Ter1460delins???",
"transcript": "ENST00000909093.1",
"protein_id": "ENSP00000579152.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1459,
"cds_start": 4380,
"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"
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{
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],
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],
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"dbsnp": "rs754847748",
"frequency_reference_population": 0.000005583071,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
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"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.338,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "NM_001171.6",
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"effects": [
"stop_lost",
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4512_*5delAGCCAG",
"hgvs_p": "p.Ter1504delins???"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}