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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: 14-72562470-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=72562470&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 72562470,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000553525.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "n.*141G>C",
"hgvs_p": null,
"transcript": "ENST00000554474.5",
"protein_id": "ENSP00000450858.1",
"transcript_support_level": 1,
"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": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.*3G>C",
"hgvs_p": null,
"transcript": "NM_001204424.2",
"protein_id": "NP_001191353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": "ENST00000553525.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.*3G>C",
"hgvs_p": null,
"transcript": "ENST00000553525.6",
"protein_id": "ENSP00000451030.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": "NM_001204424.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.*3G>C",
"hgvs_p": null,
"transcript": "ENST00000556437.5",
"protein_id": "ENSP00000451855.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.*3G>C",
"hgvs_p": null,
"transcript": "ENST00000553530.5",
"protein_id": "ENSP00000452331.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "n.*141G>C",
"hgvs_p": null,
"transcript": "ENST00000554474.5",
"protein_id": "ENSP00000450858.1",
"transcript_support_level": 1,
"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": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1006-245G>C",
"hgvs_p": null,
"transcript": "ENST00000554782.1",
"protein_id": "ENSP00000451912.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370275.1",
"protein_id": "NP_001357204.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 656,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370276.1",
"protein_id": "NP_001357205.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 656,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "NM_001370278.1",
"protein_id": "NP_001357207.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 581,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370270.1",
"protein_id": "NP_001357199.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 553,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370271.1",
"protein_id": "NP_001357200.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 553,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370272.1",
"protein_id": "NP_001357201.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 553,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370273.1",
"protein_id": "NP_001357202.1",
"transcript_support_level": null,
"aa_start": 515,
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"aa_length": 553,
"cds_start": 1543,
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"cdna_start": 2076,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Val515Leu",
"transcript": "NM_001370274.1",
"protein_id": "NP_001357203.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 553,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1534G>C",
"hgvs_p": "p.Val512Leu",
"transcript": "NM_001370279.1",
"protein_id": "NP_001357208.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1534,
"cds_end": null,
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"cdna_start": 1635,
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"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1501G>C",
"hgvs_p": "p.Val501Leu",
"transcript": "NM_001370280.1",
"protein_id": "NP_001357209.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 539,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1432G>C",
"hgvs_p": "p.Val478Leu",
"transcript": "NM_001370283.1",
"protein_id": "NP_001357212.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 516,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1333G>C",
"hgvs_p": "p.Val445Leu",
"transcript": "NM_001370286.1",
"protein_id": "NP_001357215.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 483,
"cds_start": 1333,
"cds_end": null,
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"cdna_start": 1866,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "ENST00000644463.1",
"protein_id": "ENSP00000496764.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 97,
"cds_start": 175,
"cds_end": null,
"cds_length": 294,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "XM_024449759.2",
"protein_id": "XP_024305527.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 684,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "XM_024449760.2",
"protein_id": "XP_024305528.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 684,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS6",
"gene_hgnc_id": 10002,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Val543Leu",
"transcript": "XM_024449761.2",
"protein_id": "XP_024305529.1",
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}
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}