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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: 2-39736941-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=39736941&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 39736941,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025264.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Pro436Ser",
"transcript": "NM_025264.5",
"protein_id": "NP_079540.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 503,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "ENST00000505747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025264.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Pro436Ser",
"transcript": "ENST00000505747.6",
"protein_id": "ENSP00000423933.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 503,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "NM_025264.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*515C>T",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378727.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.2267C>T",
"hgvs_p": null,
"transcript": "ENST00000460072.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460072.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*515C>T",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378727.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Pro435Ser",
"transcript": "ENST00000933810.1",
"protein_id": "ENSP00000603869.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 502,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933810.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Pro420Ser",
"transcript": "ENST00000933808.1",
"protein_id": "ENSP00000603867.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 487,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933808.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Pro419Ser",
"transcript": "ENST00000933809.1",
"protein_id": "ENSP00000603868.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 486,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933809.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Pro410Ser",
"transcript": "ENST00000933811.1",
"protein_id": "ENSP00000603870.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 477,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933811.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Pro343Ser",
"transcript": "NM_001321469.1",
"protein_id": "NP_001308398.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 410,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321469.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Pro327Ser",
"transcript": "NM_001321470.1",
"protein_id": "NP_001308399.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 394,
"cds_start": 979,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321470.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Pro296Ser",
"transcript": "ENST00000953485.1",
"protein_id": "ENSP00000623544.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 363,
"cds_start": 886,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953485.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Pro254Ser",
"transcript": "ENST00000933812.1",
"protein_id": "ENSP00000603871.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 321,
"cds_start": 760,
"cds_end": null,
"cds_length": 966,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933812.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Pro228Ser",
"transcript": "ENST00000933813.1",
"protein_id": "ENSP00000603872.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 295,
"cds_start": 682,
"cds_end": null,
"cds_length": 888,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933813.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_001321477.1",
"protein_id": "NP_001308406.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 604,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321477.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_001321478.1",
"protein_id": "NP_001308407.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 604,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321478.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_001321479.1",
"protein_id": "NP_001308408.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 604,
"cds_end": null,
"cds_length": 810,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321479.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_001321480.1",
"protein_id": "NP_001308409.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 604,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321480.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"transcript": "NM_001321481.1",
"protein_id": "NP_001308410.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 604,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321481.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Pro164Ser",
"transcript": "ENST00000933814.1",
"protein_id": "ENSP00000603873.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 231,
"cds_start": 490,
"cds_end": null,
"cds_length": 696,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933814.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Pro420Ser",
"transcript": "XM_017005050.3",
"protein_id": "XP_016860539.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 487,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005050.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Pro228Ser",
"transcript": "XM_011533119.3",
"protein_id": "XP_011531421.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 295,
"cds_start": 682,
"cds_end": null,
"cds_length": 888,
"cdna_start": 719,
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}