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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: 3-49417822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49417822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49417822,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000273588.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Lys343Lys",
"transcript": "NM_000481.4",
"protein_id": "NP_000472.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 403,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "ENST00000273588.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Lys343Lys",
"transcript": "ENST00000273588.9",
"protein_id": "ENSP00000273588.3",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 403,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "NM_000481.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283189",
"gene_hgnc_id": null,
"hgvs_c": "c.1266G>A",
"hgvs_p": "p.Lys422Lys",
"transcript": "ENST00000636166.1",
"protein_id": "ENSP00000490106.1",
"transcript_support_level": 5,
"aa_start": 422,
"aa_end": null,
"aa_length": 482,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Lys343Lys",
"transcript": "ENST00000395338.7",
"protein_id": "ENSP00000378747.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 386,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Lys343Lys",
"transcript": "NM_001164712.2",
"protein_id": "NP_001158184.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 386,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Lys316Lys",
"transcript": "ENST00000638063.1",
"protein_id": "ENSP00000489760.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 376,
"cds_start": 948,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Lys299Lys",
"transcript": "NM_001164710.2",
"protein_id": "NP_001158182.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 359,
"cds_start": 897,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Lys299Lys",
"transcript": "ENST00000458307.6",
"protein_id": "ENSP00000415619.2",
"transcript_support_level": 2,
"aa_start": 299,
"aa_end": null,
"aa_length": 359,
"cds_start": 897,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Lys316Lys",
"transcript": "ENST00000635808.1",
"protein_id": "ENSP00000489620.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 359,
"cds_start": 948,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "ENST00000538581.6",
"protein_id": "ENSP00000443200.2",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 355,
"cds_start": 885,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Lys291Lys",
"transcript": "ENST00000636865.1",
"protein_id": "ENSP00000490601.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 351,
"cds_start": 873,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Lys287Lys",
"transcript": "NM_001164711.2",
"protein_id": "NP_001158183.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 347,
"cds_start": 861,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Lys287Lys",
"transcript": "ENST00000636522.1",
"protein_id": "ENSP00000489758.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 347,
"cds_start": 861,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Lys295Lys",
"transcript": "ENST00000427987.6",
"protein_id": "ENSP00000403821.2",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 338,
"cds_start": 885,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Lys280Lys",
"transcript": "ENST00000637455.1",
"protein_id": "ENSP00000489628.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 321,
"cds_start": 840,
"cds_end": null,
"cds_length": 966,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Lys197Lys",
"transcript": "ENST00000636199.1",
"protein_id": "ENSP00000490871.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 257,
"cds_start": 591,
"cds_end": null,
"cds_length": 774,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Lys69Lys",
"transcript": "ENST00000636188.1",
"protein_id": "ENSP00000490324.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 145,
"cds_start": 207,
"cds_end": null,
"cds_length": 438,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.*401G>A",
"hgvs_p": null,
"transcript": "ENST00000399379.7",
"protein_id": "ENSP00000399943.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.3031G>A",
"hgvs_p": null,
"transcript": "ENST00000465925.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.3645G>A",
"hgvs_p": null,
"transcript": "ENST00000473163.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.1258G>A",
"hgvs_p": null,
"transcript": "ENST00000476127.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.1450G>A",
"hgvs_p": null,
"transcript": "ENST00000476226.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMT",
"gene_hgnc_id": 473,
"hgvs_c": "n.1456G>A",
"hgvs_p": null,
"transcript": "ENST00000478594.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000273588.9",
"gene_symbol": "AMT",
"hgnc_id": 473,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Lys343Lys"
},
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636166.1",
"gene_symbol": "ENSG00000283189",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1266G>A",
"hgvs_p": "p.Lys422Lys"
}
],
"clinvar_disease": "Glycine encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Glycine encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}