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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: 7-130400226-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130400226&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130400226,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000223208.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Pro262Pro",
"transcript": "NM_018718.3",
"protein_id": "NP_061188.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 373,
"cds_start": 786,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "ENST00000223208.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Pro262Pro",
"transcript": "ENST00000223208.10",
"protein_id": "ENSP00000223208.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 373,
"cds_start": 786,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "NM_018718.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*958G>A",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.469G>A",
"hgvs_p": null,
"transcript": "ENST00000485736.5",
"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": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*958G>A",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": 1868,
"mane_select": null,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.766+472G>A",
"hgvs_p": null,
"transcript": "ENST00000343969.10",
"protein_id": "ENSP00000342738.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.831G>A",
"hgvs_p": "p.Pro277Pro",
"transcript": "ENST00000675138.1",
"protein_id": "ENSP00000501597.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 388,
"cds_start": 831,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Pro265Pro",
"transcript": "ENST00000676243.1",
"protein_id": "ENSP00000501717.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 376,
"cds_start": 795,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Pro259Pro",
"transcript": "ENST00000541543.6",
"protein_id": "ENSP00000445888.2",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 370,
"cds_start": 777,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Pro259Pro",
"transcript": "ENST00000675935.1",
"protein_id": "ENSP00000501731.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 370,
"cds_start": 777,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Pro249Pro",
"transcript": "ENST00000675803.1",
"protein_id": "ENSP00000502477.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 360,
"cds_start": 747,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Pro249Pro",
"transcript": "ENST00000676312.1",
"protein_id": "ENSP00000502312.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 360,
"cds_start": 747,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Pro246Pro",
"transcript": "ENST00000675168.1",
"protein_id": "ENSP00000501563.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 357,
"cds_start": 738,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.603G>A",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000675649.1",
"protein_id": "ENSP00000502385.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 312,
"cds_start": 603,
"cds_end": null,
"cds_length": 939,
"cdna_start": 656,
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"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Pro59Pro",
"transcript": "ENST00000675563.1",
"protein_id": "ENSP00000502483.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 170,
"cds_start": 177,
"cds_end": null,
"cds_length": 513,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.831G>A",
"hgvs_p": "p.Pro277Pro",
"transcript": "XM_047421053.1",
"protein_id": "XP_047277009.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 388,
"cds_start": 831,
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"cdna_start": 837,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Pro249Pro",
"transcript": "XM_024447004.2",
"protein_id": "XP_024302772.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 360,
"cds_start": 747,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Pro227Pro",
"transcript": "XM_011516709.4",
"protein_id": "XP_011515011.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 338,
"cds_start": 681,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Pro227Pro",
"transcript": "XM_047421054.1",
"protein_id": "XP_047277010.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 338,
"cds_start": 681,
"cds_end": null,
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"cdna_start": 967,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.984G>A",
"hgvs_p": null,
"transcript": "ENST00000603513.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*332G>A",
"hgvs_p": null,
"transcript": "ENST00000674630.1",
"protein_id": "ENSP00000502521.1",
"transcript_support_level": null,
"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": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.596G>A",
"hgvs_p": null,
"transcript": "ENST00000675328.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.751G>A",
"hgvs_p": null,
"transcript": "ENST00000675542.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"phenotype_combined": "not specified|Joubert syndrome|Joubert syndrome 15",
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}
],
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}