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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: 7-99855688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99855688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99855688,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022820.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "NM_057095.3",
"protein_id": "NP_476436.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 503,
"cds_start": 768,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057095.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000354829.7",
"protein_id": "ENSP00000346887.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 503,
"cds_start": 768,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_057095.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354829.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000222382.5",
"protein_id": "ENSP00000222382.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 504,
"cds_start": 768,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222382.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000312017.9",
"protein_id": "ENSP00000312110.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 420,
"cds_start": 768,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312017.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.438G>A",
"hgvs_p": "p.Met146Ile",
"transcript": "ENST00000417625.5",
"protein_id": "ENSP00000416581.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 393,
"cds_start": 438,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417625.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000434806.5",
"protein_id": "ENSP00000411653.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000434806.5",
"protein_id": "ENSP00000411653.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "n.*485-1145G>A",
"hgvs_p": null,
"transcript": "ENST00000436834.5",
"protein_id": "ENSP00000415221.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436834.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "ENST00000874626.1",
"protein_id": "ENSP00000544685.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 542,
"cds_start": 768,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874626.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Met248Ile",
"transcript": "ENST00000874622.1",
"protein_id": "ENSP00000544681.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 534,
"cds_start": 744,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874622.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Met261Ile",
"transcript": "ENST00000874623.1",
"protein_id": "ENSP00000544682.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 508,
"cds_start": 783,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874623.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "NM_022820.5",
"protein_id": "NP_073731.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 504,
"cds_start": 768,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022820.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Met248Ile",
"transcript": "ENST00000874627.1",
"protein_id": "ENSP00000544686.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 496,
"cds_start": 744,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874627.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Met248Ile",
"transcript": "ENST00000874625.1",
"protein_id": "ENSP00000544684.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 495,
"cds_start": 744,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874625.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Met218Ile",
"transcript": "ENST00000874624.1",
"protein_id": "ENSP00000544683.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 465,
"cds_start": 654,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874624.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Met256Ile",
"transcript": "NM_057096.4",
"protein_id": "NP_476437.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 420,
"cds_start": 768,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057096.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.438G>A",
"hgvs_p": "p.Met146Ile",
"transcript": "NM_001278921.2",
"protein_id": "NP_001265850.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 393,
"cds_start": 438,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278921.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.438G>A",
"hgvs_p": "p.Met146Ile",
"transcript": "XM_047420745.1",
"protein_id": "XP_047276701.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 394,
"cds_start": 438,
"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": "XM_047420745.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.438G>A",
"hgvs_p": "p.Met146Ile",
"transcript": "XM_047420746.1",
"protein_id": "XP_047276702.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 394,
"cds_start": 438,
"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": "XM_047420746.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.336G>A",
"hgvs_p": "p.Met112Ile",
"transcript": "XM_017012544.2",
"protein_id": "XP_016868033.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 360,
"cds_start": 336,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012544.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.336G>A",
"hgvs_p": "p.Met112Ile",
"transcript": "XM_017012545.2",
"protein_id": "XP_016868034.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 360,
"cds_start": 336,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012545.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYP3A43",
"gene_hgnc_id": 17450,
"hgvs_c": "c.166-1145G>A",
"hgvs_p": null,
"transcript": "ENST00000415413.5",
"protein_id": "ENSP00000401521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"computational_score_selected": 0.05820837616920471,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.107,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Moderate"
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"verdict": "Likely_benign",
"transcript": "NM_022820.5",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}