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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: 9-95111543-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95111543&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95111543,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000289081.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "NM_000136.3",
"protein_id": "NP_000127.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "ENST00000289081.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "ENST00000289081.8",
"protein_id": "ENSP00000289081.3",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "NM_000136.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "ENST00000375305.6",
"protein_id": "ENSP00000364454.1",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "ENST00000490972.7",
"protein_id": "ENSP00000479931.1",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 492,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "NM_001243743.2",
"protein_id": "NP_001230672.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "NM_001243744.2",
"protein_id": "NP_001230673.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 492,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_011518365.4",
"protein_id": "XP_011516667.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_024447451.2",
"protein_id": "XP_024303219.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_047422948.1",
"protein_id": "XP_047278904.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_047422949.1",
"protein_id": "XP_047278905.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 558,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1084G>C",
"hgvs_p": "p.Glu362Gln",
"transcript": "XM_006717001.4",
"protein_id": "XP_006717064.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 503,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1084G>C",
"hgvs_p": "p.Glu362Gln",
"transcript": "XM_047422950.1",
"protein_id": "XP_047278906.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 503,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1084G>C",
"hgvs_p": "p.Glu362Gln",
"transcript": "XM_047422951.1",
"protein_id": "XP_047278907.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 503,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1084G>C",
"hgvs_p": "p.Glu362Gln",
"transcript": "XM_047422952.1",
"protein_id": "XP_047278908.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
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"cds_start": 1084,
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"cdna_start": 1450,
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"cdna_length": 4531,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_047422953.1",
"protein_id": "XP_047278909.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 492,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_047422954.1",
"protein_id": "XP_047278910.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
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"cds_start": 1249,
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"cdna_start": 1453,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_006717002.5",
"protein_id": "XP_006717065.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 454,
"cds_start": 1249,
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"cds_length": 1365,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_011518366.4",
"protein_id": "XP_011516668.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 445,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Glu417Gln",
"transcript": "XM_047422955.1",
"protein_id": "XP_047278911.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
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"cds_start": 1249,
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"cdna_start": 1395,
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"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1084G>C",
"hgvs_p": "p.Glu362Gln",
"transcript": "XM_047422956.1",
"protein_id": "XP_047278912.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 437,
"cds_start": 1084,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Glu265Gln",
"transcript": "XM_047422957.1",
"protein_id": "XP_047278913.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 406,
"cds_start": 793,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Glu265Gln",
"transcript": "XM_047422958.1",
"protein_id": "XP_047278914.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 406,
"cds_start": 793,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
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}
],
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}