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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: 10-76910020-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76910020&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 76910020,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001161352.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "NM_001161352.2",
"protein_id": "NP_001154824.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286628.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161352.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "ENST00000286628.14",
"protein_id": "ENSP00000286628.8",
"transcript_support_level": 1,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001161352.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286628.14"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3042C>G",
"hgvs_p": "p.Pro1014Pro",
"transcript": "ENST00000626620.3",
"protein_id": "ENSP00000485867.1",
"transcript_support_level": 1,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626620.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3009C>G",
"hgvs_p": "p.Pro1003Pro",
"transcript": "ENST00000639406.1",
"protein_id": "ENSP00000491732.1",
"transcript_support_level": 1,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3009,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639406.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Pro973Pro",
"transcript": "ENST00000286627.10",
"protein_id": "ENSP00000286627.5",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286627.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>G",
"hgvs_p": "p.Pro923Pro",
"transcript": "ENST00000640807.1",
"protein_id": "ENSP00000491555.1",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640807.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2514C>G",
"hgvs_p": "p.Pro838Pro",
"transcript": "ENST00000604624.6",
"protein_id": "ENSP00000473714.2",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2514,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604624.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1798C>G",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"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": "ENST00000639691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.3143C>G",
"hgvs_p": null,
"transcript": "ENST00000639851.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000639851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1798C>G",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"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": "ENST00000639691.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "ENST00000404771.8",
"protein_id": "ENSP00000385717.3",
"transcript_support_level": 5,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404771.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3102C>G",
"hgvs_p": "p.Pro1034Pro",
"transcript": "ENST00000639591.1",
"protein_id": "ENSP00000492793.1",
"transcript_support_level": 5,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639591.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3114C>G",
"hgvs_p": "p.Pro1038Pro",
"transcript": "ENST00000640523.1",
"protein_id": "ENSP00000491795.1",
"transcript_support_level": 5,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640523.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3105C>G",
"hgvs_p": "p.Pro1035Pro",
"transcript": "ENST00000638759.1",
"protein_id": "ENSP00000492632.1",
"transcript_support_level": 5,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638759.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3102C>G",
"hgvs_p": "p.Pro1034Pro",
"transcript": "ENST00000638575.1",
"protein_id": "ENSP00000492049.1",
"transcript_support_level": 5,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638575.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3105C>G",
"hgvs_p": "p.Pro1035Pro",
"transcript": "ENST00000638848.1",
"protein_id": "ENSP00000492414.1",
"transcript_support_level": 5,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638848.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2940C>G",
"hgvs_p": "p.Pro980Pro",
"transcript": "ENST00000640605.1",
"protein_id": "ENSP00000491435.1",
"transcript_support_level": 5,
"aa_start": 980,
"aa_end": null,
"aa_length": 1238,
"cds_start": 2940,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640605.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "ENST00000639544.1",
"protein_id": "ENSP00000492075.1",
"transcript_support_level": 5,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639544.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "ENST00000457953.6",
"protein_id": "ENSP00000396608.2",
"transcript_support_level": 5,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457953.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2931C>G",
"hgvs_p": "p.Pro977Pro",
"transcript": "ENST00000638606.1",
"protein_id": "ENSP00000491981.1",
"transcript_support_level": 5,
"aa_start": 977,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638606.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2931C>G",
"hgvs_p": "p.Pro977Pro",
"transcript": "ENST00000640182.1",
"protein_id": "ENSP00000492510.1",
"transcript_support_level": 5,
"aa_start": 977,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640182.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2928C>G",
"hgvs_p": "p.Pro976Pro",
"transcript": "ENST00000372440.6",
"protein_id": "ENSP00000361517.2",
"transcript_support_level": 5,
"aa_start": 976,
"aa_end": null,
"aa_length": 1233,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001161352.2",
"gene_symbol": "KCNMA1",
"hgnc_id": 6284,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000458661.6",
"gene_symbol": "KCNMA1-AS1",
"hgnc_id": 51213,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.425+7998G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}