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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: 3-69951870-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69951870&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69951870,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354604.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.939G>C",
"hgvs_p": "p.Lys313Asn",
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 526,
"cds_start": 939,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352241.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354604.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.939G>C",
"hgvs_p": "p.Lys313Asn",
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 526,
"cds_start": 939,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354604.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352241.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.618G>C",
"hgvs_p": "p.Lys206Asn",
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 419,
"cds_start": 618,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"biotype": "protein_coding",
"feature": "NM_000248.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.618G>C",
"hgvs_p": "p.Lys206Asn",
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 419,
"cds_start": 618,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_000248.4",
"biotype": "protein_coding",
"feature": "ENST00000394351.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.600G>C",
"hgvs_p": "p.Lys200Asn",
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 413,
"cds_start": 600,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314557.10"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Lys144Asn",
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 357,
"cds_start": 432,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531774.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Lys344Asn",
"transcript": "ENST00000956046.1",
"protein_id": "ENSP00000626105.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 557,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956046.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.1014G>C",
"hgvs_p": "p.Lys338Asn",
"transcript": "ENST00000956043.1",
"protein_id": "ENSP00000626102.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956043.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.936G>C",
"hgvs_p": "p.Lys312Asn",
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 525,
"cds_start": 936,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354605.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.936G>C",
"hgvs_p": "p.Lys312Asn",
"transcript": "ENST00000894498.1",
"protein_id": "ENSP00000564557.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 525,
"cds_start": 936,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894498.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Lys307Asn",
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 520,
"cds_start": 921,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198159.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Lys307Asn",
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 520,
"cds_start": 921,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642352.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Lys307Asn",
"transcript": "ENST00000956040.1",
"protein_id": "ENSP00000626099.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 520,
"cds_start": 921,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956040.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.918G>C",
"hgvs_p": "p.Lys306Asn",
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 519,
"cds_start": 918,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354606.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.918G>C",
"hgvs_p": "p.Lys306Asn",
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 519,
"cds_start": 918,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006722.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.918G>C",
"hgvs_p": "p.Lys306Asn",
"transcript": "ENST00000448226.9",
"protein_id": "ENSP00000391803.3",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 519,
"cds_start": 918,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448226.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.873G>C",
"hgvs_p": "p.Lys291Asn",
"transcript": "NM_198177.3",
"protein_id": "NP_937820.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 504,
"cds_start": 873,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198177.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.873G>C",
"hgvs_p": "p.Lys291Asn",
"transcript": "ENST00000314589.11",
"protein_id": "ENSP00000324443.5",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 504,
"cds_start": 873,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314589.11"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.870G>C",
"hgvs_p": "p.Lys290Asn",
"transcript": "NM_001354607.2",
"protein_id": "NP_001341536.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 503,
"cds_start": 870,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354607.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.870G>C",
"hgvs_p": "p.Lys290Asn",
"transcript": "ENST00000687384.1",
"protein_id": "ENSP00000510225.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 503,
"cds_start": 870,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687384.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.855G>C",
"hgvs_p": "p.Lys285Asn",
"transcript": "ENST00000956041.1",
"protein_id": "ENSP00000626100.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 498,
"cds_start": 855,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956041.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Lys282Asn",
"transcript": "ENST00000693031.1",
"protein_id": "ENSP00000509845.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 495,
"cds_start": 846,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}