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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: 12-66392391-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66392391&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 66392391,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001379345.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2381T>G",
"hgvs_p": "p.Met794Arg",
"transcript": "NM_001366722.1",
"protein_id": "NP_001353651.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359742.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366722.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2381T>G",
"hgvs_p": "p.Met794Arg",
"transcript": "ENST00000359742.9",
"protein_id": "ENSP00000352780.4",
"transcript_support_level": 5,
"aa_start": 794,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366722.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359742.9"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2225T>G",
"hgvs_p": "p.Met742Arg",
"transcript": "ENST00000398016.7",
"protein_id": "ENSP00000381098.3",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398016.7"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1901T>G",
"hgvs_p": "p.Met634Arg",
"transcript": "ENST00000536215.5",
"protein_id": "ENSP00000446011.1",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 786,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536215.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2459T>G",
"hgvs_p": "p.Met820Arg",
"transcript": "NM_001379345.1",
"protein_id": "NP_001366274.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379345.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2450T>G",
"hgvs_p": "p.Met817Arg",
"transcript": "ENST00000696989.1",
"protein_id": "ENSP00000513025.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2450,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696989.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2378T>G",
"hgvs_p": "p.Met793Arg",
"transcript": "ENST00000967087.1",
"protein_id": "ENSP00000637146.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2378,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967087.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2384T>G",
"hgvs_p": "p.Met795Arg",
"transcript": "NM_001439322.1",
"protein_id": "NP_001426251.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439322.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2381T>G",
"hgvs_p": "p.Met794Arg",
"transcript": "NM_001379346.1",
"protein_id": "NP_001366275.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379346.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2381T>G",
"hgvs_p": "p.Met794Arg",
"transcript": "NM_001439323.1",
"protein_id": "NP_001426252.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2381,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439323.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2303T>G",
"hgvs_p": "p.Met768Arg",
"transcript": "NM_001366724.1",
"protein_id": "NP_001353653.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366724.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2300T>G",
"hgvs_p": "p.Met767Arg",
"transcript": "NM_001366723.1",
"protein_id": "NP_001353652.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366723.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2303T>G",
"hgvs_p": "p.Met768Arg",
"transcript": "NM_001379347.1",
"protein_id": "NP_001366276.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379347.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2300T>G",
"hgvs_p": "p.Met767Arg",
"transcript": "NM_001379348.1",
"protein_id": "NP_001366277.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379348.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2228T>G",
"hgvs_p": "p.Met743Arg",
"transcript": "NM_001379349.1",
"protein_id": "NP_001366278.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2228,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379349.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2225T>G",
"hgvs_p": "p.Met742Arg",
"transcript": "NM_021150.4",
"protein_id": "NP_066973.2",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021150.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2225T>G",
"hgvs_p": "p.Met742Arg",
"transcript": "NM_001178074.2",
"protein_id": "NP_001171545.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178074.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2225T>G",
"hgvs_p": "p.Met742Arg",
"transcript": "NM_001379351.1",
"protein_id": "NP_001366280.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379351.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2225T>G",
"hgvs_p": "p.Met742Arg",
"transcript": "ENST00000538211.5",
"protein_id": "ENSP00000446047.1",
"transcript_support_level": 5,
"aa_start": 742,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2225,
"cds_end": null,
"cds_length": 3169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538211.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1823T>G",
"hgvs_p": "p.Met608Arg",
"transcript": "ENST00000538164.5",
"protein_id": "ENSP00000439053.1",
"transcript_support_level": 5,
"aa_start": 608,
"aa_end": null,
"aa_length": 927,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538164.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2057T>G",
"hgvs_p": "p.Met686Arg",
"transcript": "ENST00000540433.5",
"protein_id": "ENSP00000446024.1",
"transcript_support_level": 2,
"aa_start": 686,
"aa_end": null,
"aa_length": 875,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540433.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.2606T>G",
"hgvs_p": "p.Met869Arg",
"transcript": "XM_017019098.2",
"protein_id": "XP_016874587.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3567,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "Fraser syndrome 3,Intellectual disability,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:5",
"phenotype_combined": "not specified|not provided|Fraser syndrome 3|Intellectual disability",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}