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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: 3-186619924-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186619924&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186619924,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354571.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Met248Thr",
"transcript": "NM_001622.4",
"protein_id": "NP_001613.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 367,
"cds_start": 743,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000411641.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001622.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Met248Thr",
"transcript": "ENST00000411641.7",
"protein_id": "ENSP00000393887.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 367,
"cds_start": 743,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001622.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411641.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Met261Thr",
"transcript": "ENST00000864095.1",
"protein_id": "ENSP00000534154.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 380,
"cds_start": 782,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864095.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Met256Thr",
"transcript": "ENST00000864081.1",
"protein_id": "ENSP00000534140.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 375,
"cds_start": 767,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864081.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Met256Thr",
"transcript": "ENST00000864096.1",
"protein_id": "ENSP00000534155.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 375,
"cds_start": 767,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864096.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Met249Thr",
"transcript": "NM_001354571.2",
"protein_id": "NP_001341500.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 368,
"cds_start": 746,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354571.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Met249Thr",
"transcript": "ENST00000273784.5",
"protein_id": "ENSP00000273784.5",
"transcript_support_level": 3,
"aa_start": 249,
"aa_end": null,
"aa_length": 368,
"cds_start": 746,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273784.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Met248Thr",
"transcript": "ENST00000864093.1",
"protein_id": "ENSP00000534152.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 367,
"cds_start": 743,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864093.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Met247Thr",
"transcript": "NM_001354572.2",
"protein_id": "NP_001341501.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 366,
"cds_start": 740,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354572.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Met247Thr",
"transcript": "ENST00000864079.1",
"protein_id": "ENSP00000534138.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 366,
"cds_start": 740,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864079.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Met247Thr",
"transcript": "ENST00000864086.1",
"protein_id": "ENSP00000534145.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 366,
"cds_start": 740,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864086.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Met246Thr",
"transcript": "ENST00000864097.1",
"protein_id": "ENSP00000534156.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 365,
"cds_start": 737,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864097.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Met248Thr",
"transcript": "ENST00000864088.1",
"protein_id": "ENSP00000534147.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 362,
"cds_start": 743,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864088.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.716T>C",
"hgvs_p": "p.Met239Thr",
"transcript": "ENST00000864087.1",
"protein_id": "ENSP00000534146.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 358,
"cds_start": 716,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864087.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000864084.1",
"protein_id": "ENSP00000534143.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 333,
"cds_start": 641,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864084.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.632T>C",
"hgvs_p": "p.Met211Thr",
"transcript": "ENST00000864094.1",
"protein_id": "ENSP00000534153.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 330,
"cds_start": 632,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864094.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Met128Thr",
"transcript": "ENST00000864091.1",
"protein_id": "ENSP00000534150.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 247,
"cds_start": 383,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864091.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.732+11T>C",
"hgvs_p": null,
"transcript": "ENST00000864085.1",
"protein_id": "ENSP00000534144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864085.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.679-662T>C",
"hgvs_p": null,
"transcript": "ENST00000864089.1",
"protein_id": "ENSP00000534148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864089.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.676-662T>C",
"hgvs_p": null,
"transcript": "NM_001354573.2",
"protein_id": "NP_001341502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354573.2"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.676-662T>C",
"hgvs_p": null,
"transcript": "ENST00000864080.1",
"protein_id": "ENSP00000534139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864080.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AHSG",
"gene_hgnc_id": 349,
"hgvs_c": "c.673-662T>C",
"hgvs_p": null,
"transcript": "ENST00000864082.1",
"protein_id": "ENSP00000534141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864082.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 20,
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001354571.2",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Met249Thr"
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{
"score": -20,
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000840331.1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Alopecia-intellectual disability syndrome 1,RECLASSIFIED - AHSG POLYMORPHISM,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "RECLASSIFIED - AHSG POLYMORPHISM|Alopecia-intellectual disability syndrome 1|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}