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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: 9-131579635-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131579635&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131579635,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372189.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3654G>T",
"hgvs_p": "p.Met1218Ile",
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3654,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3654G>T",
"hgvs_p": "p.Met1218Ile",
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3654,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3150G>T",
"hgvs_p": "p.Met1050Ile",
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3147G>T",
"hgvs_p": "p.Met1049Ile",
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3096G>T",
"hgvs_p": "p.Met1032Ile",
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1077,
"cds_start": 3096,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 3220,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3543G>T",
"hgvs_p": "p.Met1181Ile",
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3543,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3150G>T",
"hgvs_p": "p.Met1050Ile",
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3147G>T",
"hgvs_p": "p.Met1049Ile",
"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3096G>T",
"hgvs_p": "p.Met1032Ile",
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1077,
"cds_start": 3096,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3093G>T",
"hgvs_p": "p.Met1031Ile",
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3033G>T",
"hgvs_p": "p.Met1011Ile",
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 3279,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3684G>T",
"hgvs_p": "p.Met1228Ile",
"transcript": "XM_011518571.3",
"protein_id": "XP_011516873.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3684,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3681G>T",
"hgvs_p": "p.Met1227Ile",
"transcript": "XM_011518572.3",
"protein_id": "XP_011516874.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3681,
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"cds_length": 3819,
"cdna_start": 3927,
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"cdna_length": 6787,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3675G>T",
"hgvs_p": "p.Met1225Ile",
"transcript": "XM_006717067.4",
"protein_id": "XP_006717130.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3675,
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"cdna_start": 3875,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3657G>T",
"hgvs_p": "p.Met1219Ile",
"transcript": "XM_005272186.5",
"protein_id": "XP_005272243.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3657,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3903,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3606G>T",
"hgvs_p": "p.Met1202Ile",
"transcript": "XM_017014633.2",
"protein_id": "XP_016870122.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
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"cds_start": 3606,
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"cdna_start": 3639,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3588G>T",
"hgvs_p": "p.Met1196Ile",
"transcript": "XM_017014635.3",
"protein_id": "XP_016870124.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3588,
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"cds_length": 3726,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3564G>T",
"hgvs_p": "p.Met1188Ile",
"transcript": "XM_017014636.3",
"protein_id": "XP_016870125.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3564,
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"cdna_start": 3882,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3561G>T",
"hgvs_p": "p.Met1187Ile",
"transcript": "XM_006717072.4",
"protein_id": "XP_006717135.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3546G>T",
"hgvs_p": "p.Met1182Ile",
"transcript": "XM_047423251.1",
"protein_id": "XP_047279207.1",
"transcript_support_level": null,
"aa_start": 1182,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3492G>T",
"hgvs_p": "p.Met1164Ile",
"transcript": "XM_047423252.1",
"protein_id": "XP_047279208.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3492,
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"cdna_start": 3525,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3348G>T",
"hgvs_p": "p.Met1116Ile",
"transcript": "XM_011518576.4",
"protein_id": "XP_011516878.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3348,
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"cds_length": 3486,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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}