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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: 3-69941273-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69941273&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69941273,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000352241.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Leu",
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 526,
"cds_start": 704,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000352241.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Leu",
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 526,
"cds_start": 704,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_001354604.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 419,
"cds_start": 383,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 419,
"cds_start": 383,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "NM_000248.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 413,
"cds_start": 383,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Leu",
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 357,
"cds_start": 215,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Leu",
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 525,
"cds_start": 701,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Leu",
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 520,
"cds_start": 704,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Leu",
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 520,
"cds_start": 704,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Leu",
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 519,
"cds_start": 701,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Leu",
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 519,
"cds_start": 701,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ser234Leu",
"transcript": "ENST00000448226.9",
"protein_id": "ENSP00000391803.3",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 519,
"cds_start": 701,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Leu",
"transcript": "NM_198177.3",
"protein_id": "NP_937820.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 656,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Leu",
"transcript": "ENST00000314589.11",
"protein_id": "ENSP00000324443.5",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 504,
"cds_start": 656,
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"cds_length": 1515,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "NM_001354607.2",
"protein_id": "NP_001341536.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 503,
"cds_start": 653,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000687384.1",
"protein_id": "ENSP00000510225.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 503,
"cds_start": 653,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ser210Leu",
"transcript": "ENST00000693031.1",
"protein_id": "ENSP00000509845.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 495,
"cds_start": 629,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Ser183Leu",
"transcript": "NM_001184967.2",
"protein_id": "NP_001171896.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 468,
"cds_start": 548,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Ser183Leu",
"transcript": "NM_001354608.2",
"protein_id": "NP_001341537.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 468,
"cds_start": 548,
"cds_end": null,
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"cdna_start": 877,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Ser183Leu",
"transcript": "ENST00000472437.5",
"protein_id": "ENSP00000418845.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 468,
"cds_start": 548,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"transcript": "NM_198158.3",
"protein_id": "NP_937801.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 413,
"cds_start": 383,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Leu",
"transcript": "ENST00000693549.1",
"protein_id": "ENSP00000509358.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 373,
"cds_start": 656,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ser219Leu",
"transcript": "ENST00000451708.5",
"protein_id": "ENSP00000398639.1",
"transcript_support_level": 5,
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}
],
"message": null
}