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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: 12-122208490-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122208490&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122208490,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019887.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Ala204Val",
"transcript": "NM_001371333.1",
"protein_id": "NP_001358262.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 239,
"cds_start": 611,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000464942.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371333.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Ala204Val",
"transcript": "ENST00000464942.7",
"protein_id": "ENSP00000442360.2",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 239,
"cds_start": 611,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371333.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464942.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000353548.11",
"protein_id": "ENSP00000320343.6",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 195,
"cds_start": 479,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353548.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1102G>A",
"hgvs_p": null,
"transcript": "NM_030765.4",
"protein_id": "NP_110392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": null,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324189.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030765.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1102G>A",
"hgvs_p": null,
"transcript": "ENST00000324189.5",
"protein_id": "ENSP00000319636.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": null,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030765.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324189.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.*67C>T",
"hgvs_p": null,
"transcript": "ENST00000267169.11",
"protein_id": "ENSP00000267169.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267169.11"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*441C>T",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"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": "ENST00000342392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"transcript_support_level": 2,
"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": "ENST00000535844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*441C>T",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"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": "ENST00000342392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"transcript_support_level": 2,
"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": "ENST00000535844.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"transcript": "ENST00000867262.1",
"protein_id": "ENSP00000537321.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 264,
"cds_start": 686,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867262.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Ala204Val",
"transcript": "NM_019887.6",
"protein_id": "NP_063940.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 239,
"cds_start": 611,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019887.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"transcript": "ENST00000867260.1",
"protein_id": "ENSP00000537319.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 237,
"cds_start": 605,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867260.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Ala202Val",
"transcript": "ENST00000867261.1",
"protein_id": "ENSP00000537320.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 237,
"cds_start": 605,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867261.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "ENST00000920225.1",
"protein_id": "ENSP00000590284.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 209,
"cds_start": 521,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920225.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "NM_001278342.1",
"protein_id": "NP_001265271.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 195,
"cds_start": 479,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278342.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"transcript": "NM_001278304.2",
"protein_id": "NP_001265233.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 186,
"cds_start": 452,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278304.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"transcript": "NM_138930.3",
"protein_id": "NP_620308.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 186,
"cds_start": 452,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138930.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "NM_001278303.1",
"protein_id": "NP_001265232.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 166,
"cds_start": 392,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278303.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ala107Val",
"transcript": "NM_001278302.1",
"protein_id": "NP_001265231.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 142,
"cds_start": 320,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1102G>A",
"hgvs_p": null,
"transcript": "NM_001330492.2",
"protein_id": "NP_001317421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330492.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1102G>A",
"hgvs_p": null,
"transcript": "ENST00000546192.1",
"protein_id": "ENSP00000438840.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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],
"verdict": "Likely_benign",
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"effects": [
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000535844.1",
"gene_symbol": "ENSG00000256861",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645606.1",
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"effects": [
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}