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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: 6-37212747-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=37212747&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 37212747,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000497775.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "NM_001395378.1",
"protein_id": "NP_001382307.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": "ENST00000497775.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "ENST00000497775.2",
"protein_id": "ENSP00000499172.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": "NM_001395378.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*219T>G",
"hgvs_p": null,
"transcript": "NM_001286401.2",
"protein_id": "NP_001273330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "ENST00000651039.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*219T>G",
"hgvs_p": null,
"transcript": "ENST00000651039.2",
"protein_id": "ENSP00000499204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "NM_001286401.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*219T>G",
"hgvs_p": null,
"transcript": "ENST00000356757.7",
"protein_id": "ENSP00000349198.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "NM_001395377.1",
"protein_id": "NP_001382306.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "NM_001395938.1",
"protein_id": "NP_001382867.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "ENST00000478262.2",
"protein_id": "ENSP00000498233.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217B",
"gene_hgnc_id": 55922,
"hgvs_c": "c.223T>G",
"hgvs_p": "p.Phe75Val",
"transcript": "ENST00000650812.1",
"protein_id": "ENSP00000498349.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 170,
"cds_start": 223,
"cds_end": null,
"cds_length": 513,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 876,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "n.*349T>G",
"hgvs_p": null,
"transcript": "ENST00000650809.1",
"protein_id": "ENSP00000498285.1",
"transcript_support_level": null,
"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": 1621,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "n.*359T>G",
"hgvs_p": null,
"transcript": "ENST00000650973.1",
"protein_id": "ENSP00000498793.1",
"transcript_support_level": null,
"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": 1646,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "n.1552T>G",
"hgvs_p": null,
"transcript": "NR_172517.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*250T>G",
"hgvs_p": null,
"transcript": "NM_145316.4",
"protein_id": "NP_660359.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*250T>G",
"hgvs_p": null,
"transcript": "ENST00000336655.7",
"protein_id": "ENSP00000338164.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*224T>G",
"hgvs_p": null,
"transcript": "NM_001395238.1",
"protein_id": "NP_001382167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*219T>G",
"hgvs_p": null,
"transcript": "NM_001371555.1",
"protein_id": "NP_001358484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*219T>G",
"hgvs_p": null,
"transcript": "ENST00000652386.1",
"protein_id": "ENSP00000498681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*144T>G",
"hgvs_p": null,
"transcript": "NM_001395244.1",
"protein_id": "NP_001382173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*144T>G",
"hgvs_p": null,
"transcript": "ENST00000652495.1",
"protein_id": "ENSP00000499097.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*224T>G",
"hgvs_p": null,
"transcript": "NM_001395243.1",
"protein_id": "NP_001382172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*224T>G",
"hgvs_p": null,
"transcript": "ENST00000652218.1",
"protein_id": "ENSP00000498862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*235T>G",
"hgvs_p": null,
"transcript": "NM_001395241.1",
"protein_id": "NP_001382170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM217",
"gene_hgnc_id": 21238,
"hgvs_c": "c.*235T>G",
"hgvs_p": null,
"transcript": "NM_001395242.1",
"protein_id": "NP_001382171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
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],
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
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"custom_annotations": null
}
],
"message": null
}