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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: 7-5987048-TTGC-ATGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5987048&ref=TTGC&alt=ATGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5987048,
"ref": "TTGC",
"alt": "ATGT",
"effect": "missense_variant",
"transcript": "ENST00000265849.12",
"consequences": [
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "NM_000535.7",
"protein_id": "NP_000526.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 862,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "ENST00000265849.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "ENST00000265849.12",
"protein_id": "ENSP00000265849.7",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 862,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "NM_000535.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.804-4060_804-4057delGCAAinsACAT",
"hgvs_p": null,
"transcript": "ENST00000382321.5",
"protein_id": "ENSP00000371758.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.1678+36_1678+39delGCAAinsACAT",
"hgvs_p": null,
"transcript": "ENST00000406569.8",
"protein_id": "ENSP00000514464.1",
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.63-4146_63-4143delGCAAinsACAT",
"hgvs_p": null,
"transcript": "ENST00000469652.1",
"protein_id": null,
"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": 93,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1900_1903delGCAAinsACAT",
"hgvs_p": "p.AlaThr634ThrSer",
"transcript": "NM_001406866.1",
"protein_id": "NP_001393795.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 924,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1900_1903delGCAAinsACAT",
"hgvs_p": "p.AlaThr634ThrSer",
"transcript": "ENST00000699839.1",
"protein_id": "ENSP00000514637.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 924,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "NM_001322014.2",
"protein_id": "NP_001308943.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 873,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "ENST00000699766.1",
"protein_id": "ENSP00000514574.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 873,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1738_1741delGCAAinsACAT",
"hgvs_p": "p.AlaThr580ThrSer",
"transcript": "NM_001406868.1",
"protein_id": "NP_001393797.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 870,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1711_1714delGCAAinsACAT",
"hgvs_p": "p.AlaThr571ThrSer",
"transcript": "ENST00000699840.2",
"protein_id": "ENSP00000514638.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 861,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1606_1609delGCAAinsACAT",
"hgvs_p": "p.AlaThr536ThrSer",
"transcript": "NM_001406869.1",
"protein_id": "NP_001393798.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 826,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1606_1609delGCAAinsACAT",
"hgvs_p": "p.AlaThr536ThrSer",
"transcript": "ENST00000699930.2",
"protein_id": "ENSP00000514695.2",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 826,
"cds_start": 1606,
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"cdna_start": 1689,
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"cdna_length": 5035,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1558_1561delGCAAinsACAT",
"hgvs_p": "p.AlaThr520ThrSer",
"transcript": "NM_001406870.1",
"protein_id": "NP_001393799.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
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"cds_start": 1558,
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"cdna_start": 1591,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "NM_001406871.1",
"protein_id": "NP_001393800.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 814,
"cds_start": 1714,
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"cdna_start": 1747,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "ENST00000699768.1",
"protein_id": "ENSP00000514576.1",
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"aa_start": 572,
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"cds_start": 1714,
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"cdna_start": 1820,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1558_1561delGCAAinsACAT",
"hgvs_p": "p.AlaThr520ThrSer",
"transcript": "NM_001322006.2",
"protein_id": "NP_001308935.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 810,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1591,
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"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1558_1561delGCAAinsACAT",
"hgvs_p": "p.AlaThr520ThrSer",
"transcript": "ENST00000699752.1",
"protein_id": "ENSP00000514561.1",
"transcript_support_level": null,
"aa_start": 520,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1714_1717delGCAAinsACAT",
"hgvs_p": "p.AlaThr572ThrSer",
"transcript": "NM_001406872.1",
"protein_id": "NP_001393801.1",
"transcript_support_level": null,
"aa_start": 572,
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"cds_start": 1714,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1546_1549delGCAAinsACAT",
"hgvs_p": "p.AlaThr516ThrSer",
"transcript": "NM_001406874.1",
"protein_id": "NP_001393803.1",
"transcript_support_level": null,
"aa_start": 516,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1546_1549delGCAAinsACAT",
"hgvs_p": "p.AlaThr516ThrSer",
"transcript": "ENST00000699827.1",
"protein_id": "ENSP00000514628.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 806,
"cds_start": 1546,
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"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AT",
"aa_alt": "TS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1516_1519delGCAAinsACAT",
"hgvs_p": "p.AlaThr506ThrSer",
"transcript": "NM_001406873.1",
"protein_id": "NP_001393802.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 796,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 4895,
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"clinvar_submissions_summary": "US:4 B:1",
"phenotype_combined": "not provided|Lynch syndrome 4;Mismatch repair cancer syndrome 4|Hereditary nonpolyposis colorectal neoplasms|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}